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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.

 

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Video Recordings

Events

July 2024

DNA Science and Human Genetics 

Lawrence Brody, Ph.D.
National Human Genome Research Institute 

Video Slides (PDF) Biography

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

Video Slides (PDF) Biography

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

Video Slides (PDF) Biography

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

Video Biography

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

Video Slides (PDF) Biography

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
 

Video Slides (PDF) Biography

October 2024

Genome Sequence Annotation

Jane Loveland, Ph.D 
European Molecular Biology Laboratory, European Bioinformatics Institute

Video Slides (PDF) Biography

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
 

Video Slides (PDF) Biography

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

Video Slides (PDF) Biography

November 2024

Importance of Diversity in Human Genomics Research

Charles Rotimi, Ph.D. 
National Human Genome Research Institute

Biography

December 2024

Disease modeling with iPSCs  

Bruce Gelb, M.D. 
Icahn School of Medicine at Mount Sinai

Biography

December 2024

Rare Genetic Diseases

Jessica Chong, Ph.D. 
University of Washington

Biography

January 2025

Importance and Practicalities of Data Sharing in the Life Sciences

Ewan Birney, Ph.D. 
European Molecular Biology Laboratory, European Bioinformatics Institute

Biography

January 2025

Comparative Genomics and the Tree of Life  

Elinor Karlsson, Ph.D. 
Broad Institute and University of Massachusetts

Biography

January 2025

Introduction to Genomic Data Science: Analyzing Genomic Data at Scale 

Michael Schatz, Ph.D. 
Johns Hopkins University

Biography

February 2025

Common Complex Genetic Diseases and Phenotypes

Neil Hanchard, M.B.B.S, D.Phil. 
National Human Genome Research Institute 

Biography

February 2025

Gene Regulation

Neil Lamb, Ph.D. 
Hudson Alpha Institute for Biotechnology

Biography

March 2025

Epigenetics  

John Greally, Ph.D., D.Med. 
Albert Einstein College of Medicine

Biography

March 2025

Complexities of Non-Coding DNA

Wendy Bickmore, Ph.D. 
University of Edinburgh

Biography

April 2025

Polygenic Risk Scores

Alicia Martin, Ph.D. 
Massachusetts General Hospital & Broad Institute 
Harvard Medical School

Biography

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

Biography

May 2025

Pharmacogenomics  

Julie Johnson, Pharm.D. 
The Ohio State University

Biography

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

Biography

Last updated: November 13, 2024