presentation on genetic engineering

This video is still being processed. Please check back later and refresh the page.

Uh oh! Something went wrong, please try again.

• Introduction to Genetic Engineering

Learn the basics of three genetic engineering techniques that generate genetically modified mice used in biomedical research.

Already registered? Sign In

Code not recognized.

About this MiniCourse

This MiniCourse is self-paced and takes one to two hours to complete. At the end of the MiniCourse, you will be able to distinguish three different types of engineering techniques, how they work, their advantages and limitations and the types of genetically modified mice that can be generated. You have the option to purchase a JAX digital badge credential and certificate for $10 (USD). In order to purchase and display a JAX digital badge credential and certificate for this MiniCourse, you must complete the Core Lessons and take the Self-Review Quiz (scoring at least 70%).

• The basic workflow of three genetic engineering techniques: embryonic stem (ES) cell-based engineering, CRISPR/Cas9 and transgenesis via pronuclear microinjection
• Advantages and limitations of each genetic engineering technique
• Types of genetic modifications generated
• Biomedical research applications

Target Audience

This MiniCourse is designed to meet the needs of people who are new to working with genetically engineered mice in genetic and genomic research projects, including graduate and postdoctoral students, advanced undergraduates with a background in biology, research assistants, early-career scientists, lab technicians, mouse colony managers and staff .

About our Education Offerings

As an independent, nonprofit biomedical research institution founded in 1929, The Jackson Laboratory leverages its unique combination of research, education and resources to achieve its mission: to discover precise genomic solutions for disease and empower the global biomedical community in its shared quest to improve human health. We offer comprehensive educational programs for scientists throughout their careers, from high school students and teachers to researchers at all experience levels, and for clinical providers interested in incorporating genetics and genomics into their practices.

While we are not an accredited higher education institution, we offer a variety of education programs — including free non-credit bearing MicroLessons and MiniCourses, with optional digital badge credential and certificate for purchase — designed to educate current and future scientists and to provide critical resources, data, tools and services to researchers worldwide.

MiniCourse topics address both foundational content and the research areas in which The Jackson Laboratory has earned a reputation for scientific leadership and excellence.

JAX Online MicroLesson and MiniCourse Catalog

Select MiniCourses available in Spanish and Mandarin

Hardware and Software Requirements

• Audio speakers or headphones
• Screen resolution of 800X600 or higher
• Adobe Acrobat Reader 5.0 or higher
• JavaScript enabled
• 2GHz processor

It is always recommended to use the most up-to-date browsers and high-speed internet connections for optimal system performance.

If you need technical support, please email: Online and Digital Education at The Jackson Laboratory .

Accessibility Statement

JAX Online and Digital Education is committed to creating online learning experiences that are accessible to all learners. Our content complies with the Americans with Disabilities Act (ADA) of 1990 (as amended in 2008) and with associated federal and state laws. We are dedicated to continually improving the user experience for everyone and applying the most current accessibility standards.

For more details, please download: JAX Online MicroLessons and MiniCourses Accessibility Information .

• Getting Started (5 min)
• MiniCourse Introduction
• Earn a JAX Digital Badge Credential and Certificate
• MiniCourse Technology
• Preparatory Lesson
• New to This Topic?
• Core Lessons (40 min)
• Embryonic Stem Cell-Based Engineering
• Genetic Engineering Using CRISPR/Cas9
• Transgenesis via Pronuclear Microinjection
• Recommended Resources
• Take a Deeper Dive
• Self-Review (10 min)
• Self-Review Quiz
• Finishing Up
• End of MiniCourse Survey
• Purchase a JAX Digital Badge Credential and Certificate
• Keep Learning

If you're seeing this message, it means we're having trouble loading external resources on our website.

If you're behind a web filter, please make sure that the domains *.kastatic.org and *.kasandbox.org are unblocked.

To log in and use all the features of Khan Academy, please enable JavaScript in your browser.

AP®︎/College Biology

Course: ap®︎/college biology   >   unit 6, introduction to genetic engineering.

• Intro to biotechnology
• DNA cloning and recombinant DNA
• Overview: DNA cloning
• Polymerase chain reaction (PCR)
• Gel electrophoresis
• DNA sequencing
• Applications of DNA technologies
• Biotechnology

Want to join the conversation?

• Upvote Button navigates to signup page
• Downvote Button navigates to signup page
• Flag Button navigates to signup page

Video transcript

• My presentations

Auth with social network:

Download presentation

We think you have liked this presentation. If you wish to download it, please recommend it to your friends in any social system. Share buttons are a little bit lower. Thank you!

Presentation is loading. Please wait.

GENETIC ENGINEERING.

Published by Amy Carr Modified over 6 years ago

Similar presentations

Presentation on theme: "GENETIC ENGINEERING."— Presentation transcript:

Genetics and Genetic Engineering

define genetic engineering

Frontiers of Genetics Chapter 13.

Biotechnology Chapter 11.

Genetic Engineering Genetic Engineers can alter the DNA code of living organisms. Selective Breeding Recombinant DNA Gel Electrophoresis Transgenic Organisms.

+ Genetic Engineering (Biotechnology) The Splice of Life.

Genetic Engineering Techniques

GENETIC ENGINEERING. INTRODUCTION For thousands of years people have changed the characteristics of plants and animals. For thousands of years people.

 DNA – Double Helix Structure  Each spiral strand is composed of a sugar phosphate backbone and attached bases  4 Bases: Adenine (A), Guanine(G), Cytosine.

Ch. 13 Genetic Engineering

Chapter 13 Genetic Engineering.

Biotechnology. Any process that uses our understanding of living things to create a product.

Irene is 10 years old and in the last few weeks, she suddenly experienced extreme tiredness, weight loss, and increased thirst. Her parents were concerned,

Recombinant Plasmids.

Genetics and Genetic Engineering terms clones b organisms or cells of nearly identical genetic makeup derived from a single source.

Genetic Engineering Some diabetics need to inject insulin. We used to get insulin from cows or pigs, but that took time and money. We now use bacteria.

Genetic Engineering Do you want a footer?.

DNA Technology Chapter 12. Applications of Biotechnology Biotechnology: The use of organisms to perform practical tasks for human use. – DNA Technology:

Recombinant DNA Technology Bacterial Transformation & GFP.

National 5 Biology Course Notes Unit 1 : Cell Biology Part 6 : Genetic Engineering.

About project

© 2024 SlidePlayer.com Inc. All rights reserved.

Open Yale Courses

You are here, beng 100: frontiers of biomedical engineering,  - genetic engineering.

Professor Saltzman introduces the elements of molecular structure of DNA such as backbone, base composition, base pairing, and directionality of nucleic acids. He describes the processes of DNA synthesis, transcription, RNA splicing, translation, and post-translational processing required to make a protein such as insulin from its genetic code (DNA). Professor Saltzman describes the genetic code. RNA interference is also discussed as a way to control gene expression, which can be applied as a new way to treat diseases.

Lecture Chapters

• Introduction
• Building Blocks of DNA
• Structure of DNA and RNA
• Central Dogma and DNA Synthesis
• Genetic Code and Protein Synthesis
• Control of Gene Expression

Got any suggestions?

We want to hear from you! Send us a message and help improve Slidesgo

Top searches

Trending searches

memorial day

12 templates

66 templates

8 templates

environmental science

36 templates

ocean theme

44 templates

49 templates

Genetics Presentation templates

Some traits are passed from generations to generations just like we pass you these amazing templates for google slides & powerpoint. speak about genetics, prepare interesting lessons, workshops or give fun facts with the many editable resources we have included the slides.

It seems that you like this template!

Mendel's laws: independent assortment.

Download the Mendel's Laws: Independent Assortment presentation for PowerPoint or Google Slides. The education sector constantly demands dynamic and effective ways to present information. This template is created with that very purpose in mind. Offering the best resources, it allows educators or students to efficiently manage their presentations and engage...

Science Subject for High School - 9th Grade: Molecular Genetics

DNA is fascinating! The Slidesgo team marvels at how within something so microscopic, there can be so much information about not only whether we have green or blue eyes, but even about our personality. So, genetics defines us and, therefore, studying it is very important. In any high school science...

Premium template

Unlock this template and gain unlimited access

Several decades ago, the structure of the DNA was finally discovered. It was made to the public on April 25, 1953, and every year, on that same date, the DNA Day is celebrated. What a cool topic to talk about in a presentation, right? Download our template and wow your...

World Down Syndrome Day

Download the "World Down Syndrome Day" presentation for PowerPoint or Google Slides. Healthcare goes beyond curing patients and combating illnesses. Raising awareness about diseases, informing people about prevention methods, discussing some good practices, or even talking about a balanced diet—there are many topics related to medicine that you could be...

Molecular Genetics - Science - 10th Grade

Science is constantly evolving and there's always something new to discover. For those teaching 10th grade students about molecular genetics, there's now a creative and engaging template available that's full of fun exercises and answers. With colorful and inspiring DNA illustrations, this template is sure to captivate your students' imaginations....

Molecular Genetics - Science - 11th Grade

Get ready to impart knowledge about the fascinating world of molecular genetics to your 11th graders like never before! This Google Slides and PowerPoint template, brimming with creatively illustrated formal designs, ensures your lesson catches their attention right from the start. Designed to accommodate a wide range of education styles,...

DNA Structure History Thesis: Double Helix

Cool template designs are in Slidesgo’s DNA. But what’s inside a human’s DNA? If you have investigated the language that shapes our species, this template is the perfect ally for your thesis defence. This design is filled with illustrations of double helixes that will make your content more visual and...

Science Subject for High School - 9th Grade: Molecular Genetics Infographics

It’s time for a DNA class! This topic is so fascinating! To understand how our body works and how something microscopic holds so much information is incredible. Whether it’s for the original template about Molecular Genetics or any other, these infographics are perfect to write down your data about your...

DNA: The Human Body Recipe

The "recipe" for a new human life is quite complicated, but we all know that it begins with love. Then, a couple of cells called "ovum" and "spermatozoon" do some magic... and then the stork comes and brings a new baby. We're just kidding, but what's true is that DNA...

Achondroplasia Condition

Download the Achondroplasia Condition presentation for PowerPoint or Google Slides. Taking care of yourself and of those around you is key! By learning about various illnesses and how they are spread, people can get a better understanding of them and make informed decisions about eating, exercise, and seeking medical attention....

Molecular Genetics and Biotechnology - 12th Grade

Download the "Molecular Genetics and Biotechnology - 12th Grade" presentation for PowerPoint or Google Slides. High school students are approaching adulthood, and therefore, this template’s design reflects the mature nature of their education. Customize the well-defined sections, integrate multimedia and interactive elements and allow space for research or group projects...

DNA Nanotechnology Thesis

If you are looking for the perfect presentation to defend your thesis on DNA nanotechnology, we are happy to say you've come to the right place. Explore this professional template with blue and pink colors and illustrations of a DNA chain, with which you can structure your thesis explanation in...

Genetic Testing for Cancer Breakthrough

A major breakthrough in the fight against cancer recently occurred in the form of a new discovery that genetic testing can be a key tool in detecting this devastating disease. While it's too early to know for sure just what impact this discovery will have, it's fair to say that...

Genetic Diseases

Download the "Genetic Diseases" presentation for PowerPoint or Google Slides. Taking care of yourself and of those around you is key! By learning about various illnesses and how they are spread, people can get a better understanding of them and make informed decisions about eating, exercise, and seeking medical attention....

DNA, Genes and Chromosomes

Download the "DNA, Genes and Chromosomes" presentation for PowerPoint or Google Slides. Healthcare goes beyond curing patients and combating illnesses. Raising awareness about diseases, informing people about prevention methods, discussing some good practices, or even talking about a balanced diet—there are many topics related to medicine that you could be...

DNA and RNA as Pillars of Molecular Genetics

Venture into the world of molecular genetics with this Google Slides and PowerPoint template. Perfect for discussing intricate topics like DNA and RNA, this layout is a blend of education and entertainment. The design, with futuristic purple elements, radiates a cool and innovative feel. Engage your audience with visually pleasing...

Genetics and Heredity - Biology - 9th Grade

From the color of our eyes to the texture of our hair, genetics play a significant role in shaping who we are. It's fascinating to think that we inherit traits from our parents and ancestors that have been passed down for generations. Let's explore this! These clear slides are editable...

DNA Infographics

These new infographics have designs that revolve around illustrations of DNA and helices, so that makes them great for health-related presentations or scientific topics. All of them are very colorful, and the diagrams are varied, including circles, processes, and have a number of elements that goes from three to eight.

• Page 1 of 3

Great presentations, faster

Slidesgo for Google Slides :

The easy way to wow

Register for free and start editing online

Genetic Engineering

Jan 04, 2020

230 likes | 399 Views

Genetic Engineering. Genetic Engineering. This is any way the the genetic material of an organism is changed in order to have desired traits. Geneticists have many techniques to do this. Selective Breeding. This is the method of purposely mating different individuals with each other.

Share Presentation

• genetic code
• genetically identical
• single dna base
• produce pure bred organisms

Presentation Transcript

Genetic Engineering • This is any way the the genetic material of an organism is changed in order to have desired traits. • Geneticists have many techniques to do this.

Selective Breeding • This is the method of purposely mating different individuals with each other. • The goal of this is to have organisms with certain desired characteristics. • Ex. Plants that yield more fruit • Cows that produce more milk

Inbreeding • This is when two individuals with the same or very similar sets of alleles are crossed. • The offspring that are produced have similar traits as their parents • Inbreeding can be used to produce pure bred organisms • Pure bred dogs are a product of inbreeding • Golden retrievers, German shepherds, etc.

Negatives of Inbreeding • Produces little variation • Can lead to the inheritance of genetic disorders

Hybridization • When breeders cross genetically different individuals • The hybrid is meant to have the best traits from both of the parents • Ex. Corn with a lot of kernels and is resistant to disease.

Cloning • Cloning is the process in which scientists are able to produce genetically identical individuals. • A clone is genetically identical to the organism from which it was produced from

Cloning Plants • Plants can be cloned by taking cuttings • A cutting can be a leaf or a stem • A cutting can grow an entirely new plant

Cloning Animals • Much more difficult than cloning a plant • You cannot use a cutting • Dolly was a sheep that was cloned • Scientists took the egg from one sheep, inserted the nucleus from the body cell of another sheep, and implanted the embryo into the third sheep.

Human Genome project • The objective is to sequence every gene in the human body.

Mutations • A mutation is any change in the gene or genome of an individual • This change can either be positive or negative. • Negative- Any thing that reduces an organisms likely hood of surviving and reproducing. • Ex. Cancer, a mutation causes cells to divide uncontrollably and can be life threatening • Positive- Anything that increases the likelihood of an organism surviving and reproducing

Mutations • Point Mutation- The changing of a single DNA base • Insertion- The addition of one base to a DNA sequence • Deletion- One nitrogenous base is removed from a sequence

Genetic Engineering in Bacteria • Scientists insert segments of human DNA into bacteria DNA • This causes the bacteria to produce things humans need • Insulin

Gene Therapy • This is when scientist insert working copies of genes into the cells of a person in order to correct a genetic disorder. • Hemophilia- Treated by injecting viruses with a specific genetic code. This genetic code becomes part of the host DNA to produce the necessary proteins and enzymes.

• More by User

Therapeutic Genetic Manipulations. Drugs: bacteria engineered to produce proteins needed by humans Organs: Animals engineered to produce tissue or organs that won't be rejected by humans.Somatic genetic therapy--inserting

351 views • 19 slides

Breeding Strategies. Selective Breeding: Mating individuals with a desired trait. Ex: milk cowsInbreeding: Mating individuals with similar characteristics. Ex: pure-bred dogs, royal families.Risks: increased chance of recessive genetic defects in offspring.. Farmers and ranchers throughout histor

570 views • 31 slides

GENETIC ENGINEERING

GENETIC ENGINEERING. INTRODUCTION. For thousands of years people have changed the characteristics of plants and animals. Through selective breeding Through the exploitation of mutations

457 views • 13 slides

GENETIC ENGINEERING. SC B-4.9 Exemplify ways that introduce new genetic characteristics into an organism or a population by applying the principles of modern genetics. CN Page 104 Notebook EQ: How has technology allowed humans to genetically alter an organism?. Changing the Living World.

547 views • 19 slides

Genetic Engineering. By: Becka Kangas. Teachers page. Students click HERE to skip this section Teachers click the arrow to continue through the teacher information section. Target Audience. 9 th grade biology students Should know mitosis and meiosis.

873 views • 49 slides

Genetic Engineering. BIOTECHNOLOGY & RECOMBINANT DNA TECHNIQUE. It is the methods scientist use to study and manipulate DNA. It made it possible for researchers to genetically alter organisms to give them more useful traits. . BIOTECHNOLOGY & RECOMBINANT DNA TECHNIQUE.

2.52k views • 37 slides

Genetic Engineering . Selective breeding.  Selective breeding: Inbreeding - Parents chosen for natural traits to be passed on to create new variations: increase food production, new pets, flowers

546 views • 30 slides

Genetic Engineering. Genetic Engineering. The process of making changes in the DNA code of living organisms. Can be done in a variety of different ways. Manipulating DNA Cell Transformation Transgenics Cloning. Selective Breeding.

289 views • 9 slides

Genetic Engineering. 4.4.1. Brief Summary of the Unit.

391 views • 32 slides

Genetic Engineering. Applying utilitarianism. Types. Genetic engineering is the process of identifying sections of DNA that cause particular features. The majority of this research is done under the Human Genome Project. There are generally accepted to be two types of genetic engineering:

566 views • 11 slides

Genetic Engineering. Timothy G. Standish, Ph. D. Genetic Engineering. Genetic engineering involves taking fragments of DNA and manipulating them using enzymes and in other ways to make new genetic constructs

810 views • 19 slides

industrial use of living organisms, or parts of living organisms to produce foods, drugs, or other products. Genetic Engineering. Means making changes to DNA in order to change the way living things work. Creates new crops and farm animals Make bacteria that can make medicines

543 views • 30 slides

GENETIC ENGINEERING. What is it? What are the advantages (pros) and disadvantages (cons)? What is your opinion?. Genetic Engineering. Means making changes to DNA in order to change the way living things work. Creates new crops and farm animals Make bacteria that can make medicines

805 views • 42 slides

Genetic Engineering. “Amazing Schemes Within Your Genes”. What is genetic engineering?. Moving small pieces of DNA from one organism into another organism. What is recombinant DNA technology?. Same thing as genetic engineering

458 views • 21 slides

Genetic Engineering. Genetic transformation of E. coli bacteria. What is genetic transformation?. Direct manipulation of genes to change an organism’s characteristics Provides a benefit to humans in some way. Cell wall. GFP. pGLO plasmids. Target organism: E. coli.

368 views • 19 slides

Genetic Engineers can alter the DNA code of living organisms. Selective Breeding Recombinant DNA PCR Gel Electrophoresis Transgenic Organisms. Genetic Engineering. Breed only those plants or animals with desirable traits

636 views • 17 slides

GENETIC ENGINEERING. By awesome Michael, Donovan, Zara and ordinary Calvin. 5.13 Describe how plasmids and viruses can act as vectors, which take up pieces of DNA, then insert this recombinant DNA into other cells.

251 views • 16 slides

Genetic Engineering. Bioethics. Who we are. University of Chicago iGEM team “International Genetically Engineered Machines” Competition Create a genetically modified organism or “machine” every summer 10 weeks, 6-12 undergraduates and highschoolers 1 weekend at MIT Lots of prizes.

278 views • 12 slides

Genetic Engineering. 4.4.7 – State that when genes are transferred between species, the amino acid sequence of polypeptdies translated from them is unchanged because the genetic code is universal. Genetic engineering – DNA technology has resulted in biotechnology ,

728 views • 48 slides

GENETIC ENGINEERING. GENETIC ENGINEERING…. Is a technique to alter the chemistry of genetic material (DNA & RNA). Altered genetic material is introduced into a host organism. This changes the Phenotype of the host organism. STEPS IN PLANT GENETIC ENGG.

491 views • 22 slides

Genetic Engineering. Intent of altering human genome Introducing new genetic material into genome Isolating genes to produce on large scale ( Insulin). Recombinant DNA. DNA that contains genes of two species How? Restriction enzymes – cut out desired gene

878 views • 29 slides

Genetic Engineering. Biotechnology. February 1, 2010 Do Now: What is being described by this picture?. Genetic Engineering. What are some of the ways scientists use their knowledge of DNA?. Genetic Engineering:. Agriculture Manufacturing Medicine.

372 views • 22 slides

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

• View all journals
• Explore content
• About the journal
• Publish with us
• Sign up for alerts
• Perspective
• Published: 13 May 2024

Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases

• Nona Farbehi   ORCID: orcid.org/0000-0001-8461-236X 1 , 2 , 3   na1 ,
• Drew R. Neavin   ORCID: orcid.org/0000-0002-1783-6491 1   na1 ,
• Anna S. E. Cuomo 1 , 4 ,
• Lorenz Studer   ORCID: orcid.org/0000-0003-0741-7987 3 , 5 ,
• Daniel G. MacArthur 4 , 6 &
• Joseph E. Powell   ORCID: orcid.org/0000-0002-5070-4124 1 , 3 , 7  

Nature Genetics volume  56 ,  pages 758–766 ( 2024 ) Cite this article

2710 Accesses

13 Altmetric

Metrics details

• Population genetics
• Transcriptomics

Human pluripotent stem (hPS) cells can, in theory, be differentiated into any cell type, making them a powerful in vitro model for human biology. Recent technological advances have facilitated large-scale hPS cell studies that allow investigation of the genetic regulation of molecular phenotypes and their contribution to high-order phenotypes such as human disease. Integrating hPS cells with single-cell sequencing makes identifying context-dependent genetic effects during cell development or upon experimental manipulation possible. Here we discuss how the intersection of stem cell biology, population genetics and cellular genomics can help resolve the functional consequences of human genetic variation. We examine the critical challenges of integrating these fields and approaches to scaling them cost-effectively and practically. We highlight two areas of human biology that can particularly benefit from population-scale hPS cell studies, elucidating mechanisms underlying complex disease risk loci and evaluating relationships between common genetic variation and pharmacotherapeutic phenotypes.

This is a preview of subscription content, access via your institution

Access options

Access Nature and 54 other Nature Portfolio journals

Get Nature+, our best-value online-access subscription

24,99 € / 30 days

cancel any time

Subscribe to this journal

Receive 12 print issues and online access

195,33 € per year

only 16,28 € per issue

Buy this article

• Purchase on Springer Link
• Instant access to full article PDF

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank

In vitro reconstitution of epigenetic reprogramming in the human germ line

A deep catalogue of protein-coding variation in 983,578 individuals.

Thomson, J. A. Embryonic stem cell lines derived from human blastocysts. Science https://doi.org/10.1126/science.282.5391.1145 (1998).

Takahashi, K. & Yamanaka, S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126 , 663–676 (2006).

Article   CAS   PubMed   Google Scholar  

Takahashi, K. et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131 , 861–872 (2007).

Liu, G., David, B. T., Trawczynski, M. & Fessler, R. G. Advances in pluripotent stem cells: history, mechanisms, technologies, and applications. Stem Cell Rev. Rep. 16 , 3–32 (2020).

Article   PubMed   Google Scholar  

Efrat, S. Epigenetic memory: lessons from iPS cells derived from human β cells. Front. Endocrinol. 11 , 614234 (2020).

Article   Google Scholar  

Anderson, R. H. & Francis, K. R. Modeling rare diseases with induced pluripotent stem cell technology. Mol. Cell. Probes 40 , 52–59 (2018).

Article   CAS   PubMed   PubMed Central   Google Scholar  

Spitalieri, P., Talarico, V. R., Murdocca, M., Novelli, G. & Sangiuolo, F. Human induced pluripotent stem cells for monogenic disease modelling and therapy. World J. Stem Cells 8 , 118–135 (2016).

Article   PubMed   PubMed Central   Google Scholar  

Passier, R., Orlova, V. & Mummery, C. Complex tissue and disease modeling using hiPSCs. Cell Stem Cell 18 , 309–321 (2016).

Warren, C. R., Jaquish, C. E. & Cowan, C. A. The NextGen genetic association studies consortium: a foray into in vitro population genetics. Cell Stem Cell 20 , 431–433 (2017).

Visscher, P. M., Brown, M. A., McCarthy, M. I. & Yang, J. Five years of GWAS discovery. Am. J. Hum. Genet. 90 , 7–24 (2012).

Tak, Y. G. & Farnham, P. J. Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. Epigenetics Chromatin 8 , 57 (2015).

Umans, B. D., Battle, A. & Gilad, Y. Where are the disease-associated eQTLs? Trends Genet. 37 , 109–124 (2021).

Yazar, S. et al. Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease. Science 376 , eabf3041 (2022).

Jerber, J. et al. Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation. Nat. Genet. 53 , 304–312 (2021).

Neavin, D. et al. Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells. Genome Biol. 22 , 76 (2021).

Cuomo, A. S. E. et al. Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nat. Commun. 11 , 810 (2020).

Warren, C. R. et al. Induced pluripotent stem cell differentiation enables functional validation of GWAS variants in metabolic disease. Cell Stem Cell 20 , 547–557 (2017).

Kishore, S. et al. A non-coding disease modifier of pancreatic agenesis identified by genetic correction in a patient-derived iPSC line. Cell Stem Cell 27 , 137–146 (2020).

Magdy, T. et al. RARG variant predictive of doxorubicin-induced cardiotoxicity identifies a cardioprotective therapy. Cell Stem Cell 28 , 2076–2089 (2021).

Bourgeois, S. et al. Towards a functional cure for diabetes using stem cell-derived beta cells: are we there yet? Cells 10 , 191 (2021).

Sharma, A., Sances, S., Workman, M. J. & Svendsen, C. N. Multi-lineage human iPSC-derived platforms for disease modeling and drug discovery. Cell Stem Cell 26 , 309–329 (2020).

Volpato, V. & Webber, C. Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility. Dis. Model. Mech. 13 , dmm042317 (2020).

Banovich, N. E. et al. Impact of regulatory variation across human iPSCs and differentiated cells. Genome Res. 28 , 122–131 (2018).

Kilpinen, H. et al. Common genetic variation drives molecular heterogeneity in human iPSCs. Nature 546 , 370–375 (2017).

Panopoulos, A. D. et al. iPSCORE: a resource of 222 iPSC lines enabling functional characterization of genetic variation across a variety of cell types. Stem Cell Rep. 8 , 1086–1100 (2017).

Article   CAS   Google Scholar  

Chen, G., Ning, B. & Shi, T. Single-cell RNA-seq technologies and related computational data analysis. Front. Genet. 10 , 317 (2019).

Elorbany, R. et al. Single-cell sequencing reveals lineage-specific dynamic genetic regulation of gene expression during human cardiomyocyte differentiation. PLoS Genet. 18 , e1009666 (2022).

Ward, M. C., Banovich, N. E., Sarkar, A., Stephens, M. & Gilad, Y. Dynamic effects of genetic variation on gene expression revealed following hypoxic stress in cardiomyocytes. eLife 10 , e57345 (2021).

Shi, Z.-D. et al. Genome editing in hPSCs reveals GATA6 haploinsufficiency and a genetic interaction with GATA4 in human pancreatic development. Cell Stem Cell 20 , 675–688 (2017).

Strober, B. J. et al. Dynamic genetic regulation of gene expression during cellular differentiation. Science 364 , 1287–1290 (2019).

González, F. et al. An iCRISPR platform for rapid, multiplexable, and inducible genome editing in human pluripotent stem cells. Cell Stem Cell 15 , 215–226 (2014).

Barbeira, A. N. et al. Exploiting the GTEx resources to decipher the mechanisms at GWAS loci. Genome Biol. 22 , 49 (2021).

Hamazaki, T., El Rouby, N., Fredette, N. C., Santostefano, K. E. & Terada, N. Concise review: induced pluripotent stem cell research in the era of precision medicine. Stem Cells 35 , 545–550 (2017).

Cuomo, A. S. E. et al. CellRegMap: a statistical framework for mapping context-specific regulatory variants using scRNA-seq. Mol. Syst. Biol. 18 , e10663 (2022).

Cuomo, A. S. E., Nathan, A., Raychaudhuri, S., MacArthur, D. G. & Powell, J. E. Single-cell genomics meets human genetics. Nat. Rev. Genet. 24 , 535–549 (2023).

Mirauta, B. A. et al. Population-scale proteome variation in human induced pluripotent stem cells. eLife 9 , e57390 (2020).

Findley, A. S. et al. Functional dynamic genetic effects on gene regulation are specific to particular cell types and environmental conditions. eLife 10 , e67077 (2021).

Kimura, M. et al. En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH. Cell https://doi.org/10.1016/j.cell.2022.09.031 (2022).

Llufrio, E. M., Wang, L., Naser, F. J. & Patti, G. J. Sorting cells alters their redox state and cellular metabolome. Redox Biol. 16 , 381–387 (2018).

Shen, S. et al. Integrating single-cell genomics pipelines to discover mechanisms of stem cell differentiation. Trends Mol. Med. https://doi.org/10.1016/j.molmed.2021.09.006 (2021).

van der Wijst, M. et al. The single-cell eQTLGen consortium. eLife 9 , e52155 (2020).

Soskic, B. et al. Immune disease risk variants regulate gene expression dynamics during CD4 + T cell activation. Nat. Genet. 54 , 817–826 (2022).

Daniszewski, M. et al. Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma. Cell Genomics 2 , 100142 (2022).

Senabouth, A. et al. Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration. Nat. Commun. 13 , 4233 (2022).

Benaglio, P. et al. Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex immune trait variants using single nucleus ATAC-seq in peripheral blood. PLoS Genet. 19 , e1010759 (2023).

Baysoy, A., Bai, Z., Satija, R. & Fan, R. The technological landscape and applications of single-cell multi-omics. Nat. Rev. Mol. Cell Biol. 24 , 695–713 (2023).

Weinshilboum, R. M. & Wang, L. Pharmacogenomics: precision medicine and drug response. Mayo Clin. Proc. 92 , 1711–1722 (2017).

Pirmohamed, M. Personalized pharmacogenomics: predicting efficacy and adverse drug reactions. Annu. Rev. Genom. Hum. Genet. 15 , 349–370 (2014).

Nelson, M. R. et al. The support of human genetic evidence for approved drug indications. Nat. Genet. 47 , 856–860 (2015).

Hay, M., Thomas, D. W., Craighead, J. L., Economides, C. & Rosenthal, J. Clinical development success rates for investigational drugs. Nat. Biotechnol. 32 , 40–51 (2014).

Holmgren, G. et al. Long-term chronic toxicity testing using human pluripotent stem cell-derived hepatocytes. Drug Metab. Dispos. 42 , 1401–1406 (2014).

Kim, J.-H., Kang, M., Jung, J.-H., Lee, S.-J. & Hong, S.-H. Human pluripotent stem cell-derived alveolar epithelial cells as a tool to assess cytotoxicity of particulate matter and cigarette smoke extract. Dev. Reprod. 26 , 155–163 (2022).

Sharma, A. et al. High-throughput screening of tyrosine kinase inhibitor cardiotoxicity with human induced pluripotent stem cells. Sci. Transl. Med. 9 , eaaf2584 (2017).

Han, Y. et al. Identification of SARS-CoV-2 inhibitors using lung and colonic organoids. Nature 589 , 270–275 (2021).

Lam, C. K. & Wu, J. C. Clinical trial in a dish: using patient-derived induced pluripotent stem cells to identify risks of drug-induced cardiotoxicity. Arterioscler. Thromb. Vasc. Biol. 41 , 1019–1031 (2021).

Iwata, R. et al. Mitochondria metabolism sets the species-specific tempo of neuronal development. Science 379 , eabn4705 (2023).

Miller, J. D. et al. Human iPSC-based modeling of late-onset disease via progerin-induced aging. Cell Stem Cell 13 , 691–705 (2013).

Hergenreder, E. et al. Combined small-molecule treatment accelerates maturation of human pluripotent stem cell-derived neurons. Nat. Biotechnol. https://doi.org/10.1038/s41587-023-02031-z (2024).

Fowler, J. L., Ang, L. T. & Loh, K. M. A critical look: challenges in differentiating human pluripotent stem cells into desired cell types and organoids. Wiley Interdiscip. Rev. Dev. Biol. 9 , e368 (2020).

Jiang, S., Feng, W., Chang, C. & Li, G. Modeling human heart development and congenital defects using organoids: how close are we? J. Cardiovasc. Dev. Dis. 9 , 125 (2022).

CAS   PubMed   PubMed Central   Google Scholar  

Tremmel, D. M. et al. Validating expression of beta cell maturation-associated genes in human pancreas development. Front. Cell Dev. Biol. 11 , 1103719 (2023).

Washer, S. J. et al. Single-cell transcriptomics defines an improved, validated monoculture protocol for differentiation of human iPSC to microglia. Sci. Rep. 12 , 19454 (2022).

Wolf, F. A., Angerer, P. & Theis, F. J. SCANPY: large-scale single-cell gene expression data analysis. Genome Biol. 19 , 15 (2018).

Wilson, S. B. et al. DevKidCC allows for robust classification and direct comparisons of kidney organoid datasets. Genome Med. 14 , 19 (2022).

Subramanian, A. et al. Single cell census of human kidney organoids shows reproducibility and diminished off-target cells after transplantation. Nat. Commun. 10 , 5462 (2019).

Kammers, K. et al. Gene and protein expression in human megakaryocytes derived from induced pluripotent stem cells. J. Thromb. Haemost. 19 , 1783–1799 (2021).

De Sousa, P. A. et al. Rapid establishment of the European Bank for induced Pluripotent Stem Cells (EBiSC)—the Hot Start experience. Stem Cell Res. 20 , 105–114 (2017).

Morrison, M. et al. StemBANCC: governing access to material and data in a large stem cell research consortium. Stem Cell Rev. Rep. 11 , 681–687 (2015).

The GTEx Consortium The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369 , 1318–1330 (2020).

Article   PubMed Central   Google Scholar  

Mitchell, J. M., Nemesh, J., Ghosh, S. & Handsaker, R. E. Mapping genetic effects on cellular phenotypes with ‘cell villages’. Preprint at bioRxiv https://doi.org/10.1101/2020.06.29.174383 (2020).

Neavin, D. R. et al. A village in a dish model system for population-scale hiPSC studies. Nat. Commun. 14 , 3240 (2023).

Kang, H. M. et al. Multiplexed droplet single-cell RNA-sequencing using natural genetic variation. Nat. Biotechnol. 36 , 89–94 (2018).

Wells, M. F. et al. Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages. Cell Stem Cell 30 , 312–332 (2023).

Neavin, D. et al. Demuxafy : improvement in droplet assignment by integrating multiple single-cell demultiplexing and doublet detection methods. Genome Biol. 25 , 94 (2024).

Xu, J. et al. Genotype-free demultiplexing of pooled single-cell RNA-seq. Genome Biol. 20 , 290 (2019).

Heaton, H. et al. Souporcell: robust clustering of single-cell RNA-seq data by genotype without reference genotypes. Nat. Methods 17 , 615–620 (2020).

Huang, Y., McCarthy, D. J. & Stegle, O. Vireo: Bayesian demultiplexing of pooled single-cell RNA-seq data without genotype reference. Genome Biol. 20 , 273 (2019).

Hindson, B. J. et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal. Chem. 83 , 8604–8610 (2011).

Dong, X. et al. powerEQTL: an R package and shiny application for sample size and power calculation of bulk tissue and single-cell eQTL analysis. Bioinformatics https://doi.org/10.1093/bioinformatics/btab385 (2021).

Schmid, K. T. et al. scPower accelerates and optimizes the design of multi-sample single cell transcriptomic studies. Nat. Commun. 12 , 6625 (2021).

Camp, J. G., Platt, R. & Treutlein, B. Mapping human cell phenotypes to genotypes with single-cell genomics. Science 365 , 1401–1405 (2019).

Datlinger, P. et al. Pooled CRISPR screening with single-cell transcriptome readout. Nat. Methods 14 , 297–301 (2017).

Dixit, A. et al. Perturb-Seq: dissecting molecular circuits with scalable single-cell RNA profiling of pooled genetic screens. Cell 167 , 1853–1866 (2016).

Rubin, A. J. et al. Coupled single-cell CRISPR screening and epigenomic profiling reveals causal gene regulatory networks. Cell 176 , 361–376 (2019).

Schraivogel, D. et al. Targeted Perturb-seq enables genome-scale genetic screens in single cells. Nat. Methods 17 , 629–635 (2020).

Download references

Acknowledgements

Figures were generated with BioRender.com and further developed by A. Garcia, a scientific illustrator from Bio-Graphics. This research was supported by a National Health and Medical Research Council (NHMRC) Investigator grant (J.E.P., 1175781), research grants from the Australian Research Council (ARC) Special Research Initiative in Stem Cell Science, an ARC Discovery Project (190100825), an EMBO Postdoctoral Fellowship (A.S.E.C.) and an Aligning Science Across Parkinson’s Grant (J.E.P., N.F., D.R.N. and L.S.). J.E.P. is supported by a Fok Family Fellowship.

Author information

These authors contributed equally: Nona Farbehi, Drew R. Neavin.

Authors and Affiliations

Garvan Weizmann Center for Cellular Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia

Nona Farbehi, Drew R. Neavin, Anna S. E. Cuomo & Joseph E. Powell

Graduate School of Biomedical Engineering, University of New South Wales, Sydney, New South Wales, Australia

Nona Farbehi

Aligning Science Across Parkinson’s Collaborative Research Network, Chevy Chase, MD, USA

Nona Farbehi, Lorenz Studer & Joseph E. Powell

Centre for Population Genomics, Garvan Institute of Medical Research, University of New South Wales, Sydney, New South Wales, Australia

Anna S. E. Cuomo & Daniel G. MacArthur

The Center for Stem Cell Biology and Developmental Biology Program, Sloan-Kettering Institute for Cancer Research, New York, NY, USA

Lorenz Studer

Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

Daniel G. MacArthur

UNSW Cellular Genomics Futures Institute, University of New South Wales, Sydney, New South Wales, Australia

Joseph E. Powell

You can also search for this author in PubMed   Google Scholar

Contributions

All authors conceived the topic and wrote and revised the manuscript.

Corresponding author

Correspondence to Joseph E. Powell .

Ethics declarations

Competing interests.

D.G.M. is a founder with equity in Goldfinch Bio, is a paid advisor to GSK, Insitro, Third Rock Ventures and Foresite Labs, and has received research support from AbbVie, Astellas, Biogen, BioMarin, Eisai, Merck, Pfizer and Sanofi-Genzyme; none of these activities is related to the work presented here. J.E.P. is a founder with equity in Celltellus Laboratory and has received research support from Illumina. The other authors declare no conflict of interest.

Peer review

Peer review information.

Nature Genetics thanks Kelly Frazer, Gosia Trynka and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Supplementary information.

Supplementary Table 1.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Cite this article.

Farbehi, N., Neavin, D.R., Cuomo, A.S.E. et al. Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases. Nat Genet 56 , 758–766 (2024). https://doi.org/10.1038/s41588-024-01731-9

Download citation

Received : 24 January 2023

Accepted : 20 March 2024

Published : 13 May 2024

Issue Date : May 2024

DOI : https://doi.org/10.1038/s41588-024-01731-9

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

Quick links

• Explore articles by subject
• Guide to authors
• Editorial policies

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.