Journeys in Human Genetics and Genomics Colloquium
Event Details
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between the American Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the colloquium is to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Video Recordings
YouTube Playlist: Journeys in Human Genetics and Genomics Colloquium
Events
July 2024
DNA Science and Human Genetics
Lawrence Brody, Ph.D.
National Human Genome Research Institute
July 2024
History of Genomics and the Human Genome Project
Eric Green, M.D., Ph.D.
National Human Genome Research Institute
Recommended Reading:
Human Genome Project And Its Impact On The Study Of Human Disease
Book Chapter - 2021
The Human Genome Sequence Expedition: Views from the “Base Camp”
Commentary in Genome Research - 2021
Twenty-five years of big biology
Commentary in Nature - 2015
August 2024
History of Eugenics
Christopher Donohue, Ph.D.
National Human Genome Research Institute
Recommended Reading
The History of Eugenics and the American Eugenics Movement
AMA Ed Hub Interview - March 2024
The art of medicine: From small beginnings: to build an anti-eugenic future (PDF)
The Lancet Perspective - May 2022
Disproportionate Sterilization of Latinos Under California's Eugenic Sterilization Program, 1920-1945 (PDF)
AJHG Perspectives - May 2018
August 2024
Introduction to Ethical, Legal, and Social Implications (ELSI) Research in Genetics and Genomics
Debra Matthews, Ph.D., M.A.
Johns Hopkins University Berman Institute of Bioethics
September 2024
Genotyping and DNA Sequencing Methods
Kim Doheny, Ph.D.
Johns Hopkins Medicine
Recommended Reading
Approaching complete genomes, transcriptomes and epi-omes with accurate long-read sequencing
Nature Methods - January 2023
A brief history of human disease genetics
Nature - January 2020
DNA sequencing at 40: past, present and future
Nature - October 2017
September 2024
Sequencing Genomes
Adam Phillippy, Ph.D.
National Human Genome Research Institute
Recommended Reading
Genome assembly in the telomere-to-telomere era (PDF)
Nature Reviews Genetics - September 2024
The complete sequence of the human genome (PDF)
Science - April 2022
Long-read human genome sequencing and its applications (PDF)
Nature Reviews Genetics - October 2020
October 2024
Genome Sequence Annotation
Jane Loveland, Ph.D
European Molecular Biology Laboratory, European Bioinformatics Institute
October 2024
Evaluation and Interpretation of Human Genomic Variation
Douglas Fowler, Ph.D.
University of Washington
Recommended Reading:
Will variants of uncertain significance still exist in 2030?
Am J Hum Genet - January 2024
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
Am J Hum Genet - December 2021
October 2024
The Human Pangenome
Karen Miga, Ph.D.
University of California, Santa Cruz
Recommended Reading:
Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References (PDF)
Annual Review of Genomics and Human Gen - April 2024
A draft human pangenome reference (PDF)
Nature - May 2023
The Human Pangenome Project: a global resource to map genomic diversity (PDF)
Nature - April 2022
November 2024
Importance of Diversity in Human Genomics Research
Charles Rotimi, Ph.D.
National Human Genome Research Institute
Recommended Reading:
Expanding diversity in genomics (PDF)
Nature - February 2021
Human Molecular Genetics and Genomics — Important Advances and Exciting Possibilities (PDF)
New England Journal of Medicine - January 2021
Evaluating the promise of inclusion of African ancestry populations in genomics (PDF)
NPJ Genomic Medicine - January 2020
Diversity and inclusion in genomic research: why the uneven progress? (PDF)
J Community Genet - July 2017
Ancestry and Disease in the Age of Genomic Medicine (PDF)
New England Journal of Medicine - October 2010
December 2024
Disease modeling with iPSCs
Bruce Gelb, M.D.
Icahn School of Medicine at Mount Sinai
January 2025
Importance and Practicalities of Data Sharing in the Life Sciences
Ewan Birney, Ph.D.
European Molecular Biology Laboratory, European Bioinformatics Institute
January 2025
Comparative Genomics and the Tree of Life
Elinor Karlsson, Ph.D.
Broad Institute and University of Massachusetts
January 2025
Introduction to Genomic Data Science: Analyzing Genomic Data at Scale
Michael Schatz, Ph.D.
Johns Hopkins University
February 2025
Common Complex Genetic Diseases and Phenotypes
Neil Hanchard, M.B.B.S, D.Phil.
National Human Genome Research Institute
April 2025
Polygenic Risk Scores
Alicia Martin, Ph.D.
Massachusetts General Hospital & Broad Institute
Harvard Medical School
April 2025
DNA and Forensics
Thomas Callaghan, Ph.D.
FBI Laboratory
April 2025
Newborn genetic screening and genome sequencing
Wendy Chung, M.D., Ph.D.
Boston Children’s Hospital
May 2025
Genetic research in Indigenous Americans
Nanibaa Garrison, Ph.D.
Institute for Society and Genetics and Department of Internal Medicine
University of California, Los Angeles
Last updated: December 19, 2024