Past Primers

Past videos of the Primer on Medical and Population Genetics series are freely available for viewing by clicking one of the links below. The talks are geared toward a wide audience, including research technicians, graduate students, postdoctoral fellows, and established investigators just entering the field.

The most recent sessions for each topic can be found on the Primer landing page.

 

2022 - 2023 Primers

06/29/23 Polygenic Prediction across Populations
[ video ]
Ying Wang
Broad Institute
06/21/23 Harmonization of deeply sequenced genomes
[ video ]
Zan Koenig
Broad Institute
06/15/23 suSIEx
[ video ]
Kai Yuan
Broad Institute
06/01/23 Mostly natural sequencing-by-synthesis for scRNA-seq using Ultima sequencing
[ video ]
Sean Simmons
Broad Institute
05/18/23 Copy number alterations in Slide-seq data
[ video ]
Diane Zhang
Broad Institute
05/11/23 Individual-level Tissue-Specific Imputed Transcriptomes in Drug Target Prioritization
[ video ]
Xin Wang
Broad Institute
Massachusetts General Hospital
04/27/23 Tissue-Aware Conservation Inference Toolkit (TACIT)
[ video ]
Alyssa Lawler
Harvard Medical School
Broad Institute
03/30/23 A statistical genetics guide to identifying HLA alleles driving complex disease
[ video ]
Saori Sakaue
Broad Institute
03/23/23 Inferring causal cell types driving human disease and complex traits
[ video ]
Tiffany Amariuta
Broad Institute
03/16/23 STACI
[ video ]
Xinyi Zhang
Broad Institute
03/09/23 Germline Variation and CRISPR screens
[ video ]
Sean Misek
Broad Institute
03/02/23 How cells divide labor using communication and spatial cues
[ video ]
Miri Adler
Broad Institute
02/09/23 Cross-cohort Analysis via Cloud Genomics
[ video ]
Margaret Sunitha
MGH, Broad Institute
02/02/23 Stochasticy in transcription
[ video ]
Anika Gupta
Broad Institute
01/19/23 Genetics of Inherited Retinal Degenerations
[ video ]
Eric Pierce
Emily Place
Broad Institute
Mass Eye & Ear
01/12/23 Learning representations for image-based profiling of perturbations
[ video ]
Nikita Moshkov
Broad Institute
12/08/22 Clinical interpretation of genes and variants for disease causality
[ video ]
Heidi Rehm
Broad Institute
12/01/22 Hands-on with Jupyter Notebooks in Terra
[ video ]
Elizabeth Kiernan, Anton Kovalsky, Tiffany Miller
Broad Institute
11/17/22 Hands-on with Jupyter Notebooks in Terra
[ video ]
Elizabeth Kiernan, Anton Kovalsky, Tiffany Miller
Broad Institute
11/03/22 Terra Overview and Platform Tour
[ video ]
Elizabeth Kiernan, Anton Kovalsky, Tiffany Miller
Broad Institute
10/20/22 LORALS long read sequencing
video ]
Dafni Glinos
Paul Hoffman
NY Genome Center
10/13/22 Haplotype assembly using short and long reads
[ video ]
Ramin Shirali Hossein Zade
The Delft Bioinformatics Lab
TU Delft, Netherlands
10/06/22 Creating morphological profiles from image
[ video ]
Beth Cimini
Niranj Chandrasekaran
Broad Institute of MIT and Harvard
9/22/22  Linking SNPs with genes in GWAS
[ video ]
Luke O'Connor
Schmidt Fellow at the Broad Institute of MIT and Harvard
9/15/22  Learning from pre-pandemic data to forecast viral antibody escape
[ video ]

Nikki Thadani
Postdoc, Debora S. Marks Lab, Department of Systems Biology Harvard Medical School

Sarah Gurev
PhD student at MIT in EECS

2021-2022 Primers

6/23/22 Sparse dictionary learning recovers pleiotropy from human cell fitness screens
[ video ]
Joshua Pan
Marinka Zitnik
6/16/22 Leveraging Genomic Data to Investigate the Impact of Vaccination on SARS-CoV-2 Transmission Gage Moreno
Lydia Krasilnikova
6/9/22 Sources and Consequences of Gene Expression Fluctuations
[ video ]
Stuart Sevier
6/2/22 Analysis of allele-specific expression in single cell and spatial transcriptomics
[ video ]
Luli Zou
Epigenomics
Broad Institute
5/26/22 Shared components of heritability across genetically correlated traits
[ video ]
Jenna Ballard
Broad Institute
5/12/22 Role for sodium ions in prenatal brain development and disease
[ video ]
Richard Smith
Northwestern University
Feinberg School of Medicine
4/28/22 The Lipid Droplet Knowledge Portal
[ video ]
Maria Constanzo
Tobias Walther
Robert Farese
Broad Institute
3/31/22 Challenges and opportunities for developing more generalizable polygenic risk scores
[ video ]
Ying Wang
Martin Lab
Broad Institute
3/24/22 Rigor and reproducibility in epigenome-wide association studies
[ video ]
Alex Lussier
Massachusetts General Hospital
3/17/22 Single-cell profiling in disease: approaches to dissecting mechanisms of dysfunction Francisco Garcia
3/10/22 Cell Painting: image information for illuminating disease variants
[ video ]
Anne Carpenter
Juan Caicedo
Samira Asgari
Broad Institute
3/3/22 Non-canonical open reading frames: new dimensions in the human genome
[ video ]
John Prensner
Boston Children's Hospital
Dana-Farber Cancer Institute
Broad Institute
2/17/22 Polygenic risk in the context of monogenic diseases
[ video ]
Victor Nauffal
Cardiovascular Disease Initiative
Ellinor Lab
Broad Institute
2/10/22 The contribution of de novo transposon insertions to autism spectrum disorder
[ video ]
Rebecca Borges-Monroy
Harvard University
Boston Children's Hospital
2/3/22 Chronos: a dynamic model for CRISPR data
[ video ]
Joshua Dempster
Broad Institute
1/20/22 Detecting and tracking contamination in SARS-CoV-2 sequencing with spike-in controls
[ video ]
Kim Lagerborg
Sabeti Lab
1/6/22 The evolution, evolvability, and engineering of gene regulatory DNA
[ video ]
Carl de Boer
University of British Columbia
12/9/21 Parental-fetal interplay of immune genes leads to fetal growth restriction
[ video ]
Gurman Kaur
Broad Institute
University of Oxford
12/2/21 Practical decision making for deep learning in cardiac imaging
[ video ]
James Pirruccello
Broad Institute
10/28/21 Genetic history of neoplastic mutations
[ video ]
Debra Van Egeren
10/14/21 Introduction to Linear Models
[ video ]
Jason Morton
Eberly College of Sciences
Penn State University
9/30/21 Coronavirus cross reactivity
[ video ]
Paulina Kaplonek
Ragon Institute of MGH, MIT and Harvard
9/23/21 Highly efficient imaging transcriptomics with composite in situ imaging
[ video ]
Brian Cleary
Broad Institute

 

2020 - 2021 Primers

9/17/20 A History of Eugenics
[ video ]
Robbee Wedow
Stanley Center
Broad Institute
9/24/20 RNA Product Offerings by the Genomics Platform
[ video ]
Caroline Petersen and Cole Walsh
Genomics Platform
Broad Institute
10/1/20 A Practical Guide To Differential Gene Expression and Pathway Analysis
[ video ]
Amelia Hall
Broad Institute
10/8/20 Using tximport and DEseq2 to identify differentially expressed genes: Terra tutorial
[ video ]
Amelia Hall
Broad Institute
10/15/20 scRNA-seq analyses: challenges, opportunities, and best practices - Part 1
[ video ]
Stephen Fleming
Broad Institute
10/22/20 Integration of RNA-seq and chromatin accessibly for genome-wide expression analysis
[ video ]
Lauren Wasson
Seidman Lab
Broad Institute
11/5/20 scRNA-seq analyses: challenges, opportunities, and best practices - Part 2
[ video ]
Stephen Fleming
Broad Institute
11/12/20 How to scale up GWAS to maximize power: successes & failures
[ video ]
Chris Newton-Cheh
Broad Institute
12/4/20 The A to Z of Project Management
[ video ]
Namrata Gupta
Broad Institute
1/7/21 The Baby-Seq Project - Special considerations for enrollment and consent
[ video ]
Casie Genetti
Boston Children's Hospital
1/21/21 Introduction to expression quantitative trait loci
[ video ]
Francis Auget
Broad Institute
2/4/21 Temporal Dynamics of RNA expression
[ video ]
Sophia Liu
Broad Institute
2/22/21 The Zoonomia Project
[ video ]
Diane Genereux
Broad Institute
3/4/21 Introduction to Pharmacogenetics
[ video ]
Josephine Li
Broad Institute
3/11/21 Introduction to Genetic Counseling: at the Broad and Beyond
[ video ]
Samantha Baxter and Danielle Azzariti
Broad Institute
3/18/21 Ethics in Ancient DNA research
[ video ]
Jakob Sedig
Reich Laboratory
Broad Institute
4/1/21 Ten years of variant discovery in the 1000 Genomes Project
[ video ]
Xuefang Zhao
Talkowski Laboratory
Broad Institute
4/8/21 Variant Classification using ACMG/AMP Interpreting Sequence Guidelines
[ video ]
Steven Harrison
Genomics Platform
Broad Institute
4/15/21 The Knowledge Portal Network
[ video ]
Maria Costanzo
Broad Institute
4/29/21 Gene-environmental Interactions
[ video ]
Kenny Westerman
Manning Laboratory
MGH/Broad Institute
6/1/21 Population differentiation and admixture of domestic dog breeds
[ video ]
Kathleen Morrill
Broad Institute
6/24/21 Introduction to Perturb-seq analysis
[ video ]
Ayshwarya Subramanian
Broad Institute

 

Spring 2020 Primers

3/5/20 MPG Primer: Using gnomAD - Tips and Tricks
[ video ]
Anne O'Donnell Luria
Broad Institute
5/7/20 MPG Primer: Heritability and SNP-heritability
[ video ]
Alkes Price
Broad Institute
5/22/20 Trans-ethnic polygenic risk scores: challenges and opportunities
[ video ]
Omer Weissbrod and Alicia Martin
Broad Institute
6/4/20 Genetics and epigenetic mosaicism
[ video ]
Diane Genereaux and Sarah Morton
Broad Institute
6/11/20 Introduction to fine-mapping methods
[ video ]
Hilary Finucane
Broad Institute
6/18/20 Gene and Variant Interpretation
[ video ]
Heidi Rehm
Broad Institute

 

2018-2019 Primers

10/25/18 Introduction to complex trait genetics
[ video ]
Sekar Kathiresan
Institute Member, Co-director, Medical and Population Genetics Program
Broad Institute
11/1/18

Insights from the study of the genetic basis of Mendelian disease
[ video ]

James Gusella
Harvard Medical School
Massachusetts General Hospital
Broad Institute

11/12/18 High throughput sequencing, present and future technologies
[ video ]
Niall Lennon & Maura Costello
Broad Institute
11/29/18 GWAS and secondary analyses of GWAS results
[ video ]
Gina Peloso
Department of Biostatistics
Boston University School of Public Health
12/07/18 Sequence variant calling and data handling
[ video ]
Geraldine Van der Auwera
Data Sciences Platform
Broad Institute
1/11/19 gnomAD: Using large genomic data sets to interpret human genetic variation
[ video ]
Anne O’Donnell-Luria
Center for Medelian Genomics, Broad Institute
Boston Children's Hospital
1/24/19 Current & Future Catalog Products in Genomics Platform
[ video ]
Niall Lennon
Tera Bowers
Broad Institute
1/31/19 Analysis of Rare Variants
[ video ]
Ben Neale
Massachusetts General Hospital
Broad Institute
2/28/19 Structural Variation
[ video ]
Bob Handsaker
Broad Institute
Harvard Medical School
4/02/19 Natural selection and human genetic variation
[ video ]
Steve Shaffner
Broad Institute
Infectious Disease and Microbiome Program

 

2017-2018 Primers

9/14/17 Introduction to complex trait genetics
[ video ]
Mark Daly
Institute Member
Broad Institute
9/28/17 GWAS and secondary analyses of GWAS results
[ video ]
Gina Peloso
Broad Institute
BU School of Public Health
10/5/17 High throughput sequencing and variant calling pipelines
[ video ]
Geraldine van der Auwera
Broad Institute
10/26/17 Analysis of rare variants from sequencing studies
[ video ]
Benjamin Neale
Broad Institute
11/02/17 ExAC and gnomAD: Using large genomic data sets to interpret human genetic variation
[ video ]
Daniel MacArthur
Broad Institute
11/16/17 Regulatory sequence variation in the human genome
[ video ]
Manolis Kellis
Broad Institute
1/11/18 Clinical interpretation of genes for disease causality, Part 1
[ video ]
Heidi Rehm
Broad Institute
1/18/18 Clinical interpretation of genes for disease causality, Part 2
[ video ]
Heidi Rehm
Broad Institute
1/25/18 Natural Selection and Human Genetic Variation
[ video ]
Steve Schaffner
Broad Institute
2/8/18 Structural Variation
[ video ]
Bob Handsaker
Broad Institute
2/15/18 Gut microbiome in health and disease
[ video ]
Hera Vlamakis
Broad Institute

 

2016-2017 Primers

9/29/16 Genetics in Mendelian Human Disease
[ video ]
James Gusella
Broad Institute, Mass General Hospital, Harvard Medical School
10/6/16 GWAS design and interpretation
[ video ]
Gina Peloso
Department of Biostatistics
BU School of Public Health
10/13/16 High-throughput sequencing and variant calling pipelines
[ video ]
Geraldine Van der Auwera
Data Sciences & Data Engineering
Broad Institute
10/27/16 Natural selection and human genetic variation
[ video ]
Steven Schaffner
Computational Biologist
Broad Institute
11/3/16 Human Structural Variation
[ video ]
Bob Handsaker
Software Engineer
Broad Institute
11/10/16 Analysis of rare variants from sequencing studies
[ video ]
Ben Neale
Institute Member
Broad Institute
11/17/16 ExAC and gnomAD: Using large genomic data sets to interpret human genetic variation
[ video ]
Daniel MacArthur
Institute Member
Broad Institute
12/1/16 ExAC: mutational constraint and de novo mutations
[ video ]
Kaitlin Samocha
Broad Institute
1/5/17 Clinical interpretation of sequence variants
[ video ]
Heidi Rehm
Institute Member
Broad Institute
1/19/17 Regulatory sequence variation in the human genome
[ video ]
Manolis Kellis
Institute Member
Broad Institute
1/26/17 Mitochondrial Genomics
[ video ]
Sarah Calvo
Broad Institute
2/2/17 Genome Editing
[ video ]
Neena Pyzocha
Broad Institute
2/16/17 Clinical interpretation of genes for disease causality
[ video ]
Heidi Rehm
Broad Institute
3/02/17 Analyzing Cancer Genomes
[ video ]
Gad Getz
Broad Institute

 

2015-2016 Primers

2/12/15 The microbiome
[ video ]
Ramnik Xavier
Senior Associate Member, Broad Institute
9/10/15 Introduction to complex trait genetics Mark Daly,
Co-director, Program in Medical and Population Genetics, Broad Institute
09/24/15 Genome-wide association studies: past and present Alisa Manning
Altshuler Lab, Broad Institute
10/1/15 Mendelian traits focusing on methods, modifiers and implications for complex traits James Gusella,
Associate Member, Broad Institute
10/15/15 High-throughput sequencing and variant calling pipelines Geraldine Van der Auwera
Data Sciences & Data Engineering, Broad Institute
10/22/15 Analysis of rare variants from sequencing studies Kaitlin Samocha
Graduate Student, Broad Institute
10/29/15 Natural selection and human genetic variation Stephen Schaffner
Computational Biologist, Medical and Population Genetics Program, Broad Institute
11/05/15 Annotating gene sequence variation
[ video ]
Shamil Sunyaev
Associate Member, Broad Institute
11/12/15 Translating non-coding variants to therapeutics in GWAS and cancer
[ video ]
Manolis Kellis
Associated Researcher, Broad Institute
12/3/15 Mitochondrial genomics Sarah Calvo
Computational Biologist, Broad Institute
12/10/15 Pharmacogenetics
[ video ]
Christopher Newton-Cheh
Associate Member, Broad Institute
12/17/15 Structural variation
[ video ]
Bob Handsaker
Broad Institute, Stanley Center for Psychiatric Research
Harvard Medical School, Department of Genetics
1/7/16 Challenges in Cancer Genomics
[ video ]
Gad Getz
Director, Cancer Genome Computational Analysis Group, Broad Institute
1/14/16 The Importance of phenotype definition
[ video ]
Jordan Smoller
Research Affiliate, Broad Institute

 

2014-2015 Primers

9/11/14 Introduction to complex trait genetics
[ video ]
David Altshuler,
Deputy Director, Broad Institute
10/2/14 Human Genetic Variation
[ video ]
Mark Daly,
Co-Director, Medical and Population Genetics Program, Broad Institute
10/30/14 Genome-wide association studies: past and present
[ video ]
Alisa Manning
Altshuler Lab, Broad Institute
11/6/14 Mendelian traits focusing on methods, modifiers and implications for complex traits
[ video ]
James Gusella,
Associate Member, Broad Institute
11/13/14 Sequencing and rare variant analysis
[ video ]
Ben Neale
Associated Researcher, Broad Institute
12/4/14 High-throughput sequencing and calling pipelines
[ video ]
Eric Banks
Group Leader, Genome Sequencing and Analysis Program, Broad Institute
12/11/14 Regulatory Genomics and Epigenomics of Complex Traits
[ video ]
Manolis Kellis
Associated Researcher, Broad Institute
1/8/15 Population Genetics
[ video ]
Stephen Schaffner
Computational Biologist, Medical and Population Genetics Program, Broad Institute
1/8/15 Pharmacogenetics Christopher Newton-Cheh
Associate Member, Broad Institute
1/22/15 Annotating gene sequence variation
[ video ]
Shamil Sunyaev
Associate Member, Broad Institute
1/29/15 Structural variation
[ video ]
Bob Handsaker
Broad Institute, Stanley Center for Psychiatric Research
Harvard Medical School, Department of Genetics
2/5/15 The Importance of phenotype definition
[ video ]
Jordan Smoller
Research Affiliate, Broad Institute
2/12/15 The microbiome
[ video ]
Ramnik Xavier
Senior Associate Member, Broad Institute
2/26/15 Analyzing Cancer Genetics
[ video ]
Gad Getz
Director, Cancer Genome Computational Analysis Group, Broad Institute
3/5/15 Pharmacogenetics Christopher Newton-Cheh
Associate Member, Broad Institute

 

2012-2013 Primers

9/6/12 Introduction to complex trait genetics
[ video ]
David Altshuler,
Director, Medical and Population Genetics Program, Broad Institute
9/20/12 Genetics in Mendelian human disease
[ video ]
James Gusella,
Associate Member, Broad Institute
9/27/12 Statistical common sense and common pitfalls
[ video ]
Joel Hirschhorn
Senior Associate Member, Broad Institute
10/4/12 Genetic variation, LD, HapMap and beyond
[ video ]
Mark Daly
Senior Associate Member, Broad Institute
10/18/12 Data processing and analysis of genetic variation using next-generation sequencing
[ video ]
Mark DePristo
Manager, Medical and Population Genetics Analysis, Broad Institute
10/25/12 Phenotype definition (with tales from psychiatry)
[ video ]
Jordan Smoller
Research Affiliate, Broad Institute
11/01/12 Mouse Genetics
[ video ]
David Beier
Associate Member, Broad Institute
11/15/12 Genome wide association studies: QC, analysis and interpretation
[ video ]
Alisa Knodle Manning
Altshuler Lab, Broad Institute
12/13/12 Analytic Issues Associated with Rare Variant Testing
[ video ]
Ben Neale
Associated Researcher, Broad Institute
01/10/13 Genome structural variation
[ video ]
Steve McCarroll
Director, Stanley Center Genetics Program
01/17/13 Annotating gene sequence variation
[ video ]
Shamil Sunyaev
Associate Member, Broad Institute

 

2010-2011

9/16/10 Introduction to complex trait genetics
[ video ]
David Altshuler,
Director, Medical and Population Genetics Program, Broad Institute
9/23/10 Genetics in Mendelian human disease
[ video ]
James Gusella,
Associate Member, Broad Institute
10/14/10 Primer on genetic variation, LD, HapMap and beyond
[ video ]
Mark Daly
Senior Associate Member, Broad Institute
10/21/10 Understanding and Interpreting GWAS Data
[ video ]
Paul de Bakker
Research Affiliate, Broad Institute
10/28/10 Phenotype Definition (with tales from psychiatry)
[ video ]
Jordan Smoller
Research Affiliate, Broad Institute
11/18/10 Genetics of Gene Expression
[ video ]
Barbara Stranger
Associate Member, Broad Institute

Chris Cotsapas
Research Affiliate, Broad Institute

12/2/10 Next Generation Resequencing
[ video ]
Mark DePristo
Manager, Medical and Population Genetics Analysis, Broad Institute
1/20/11 Mouse Genetics
[ video ]
David R. Beier
Associate Member, Broad Institute
 
2009-2010
9/17/09 Introduction to complex trait genetics
[ video ]
David Altshuler,
Director, Medical and Population Genetics Program, Broad Institute
9/24/09 A primer on human genetic variation
[ video ]
Mark Daly,
Senior Associate Member, Broad Institute
10/1/09 Genetics in Mendelian human disease
[ video ]
James Gusella,
Associate Member, Broad Institute
1008/09 Analysis of genome-wide SNP datasets
[ video ]
Shaun Purcell,
Associate Member, Broad Institute
10/15/09 Gene-environment and gene-gene interactions
[video]
Peter Kraft,
Associate Professor, Epidemiology and Biostatistics, Harvard School of Public Health
10/29/09 Understanding and Interpreting GWAS Data
[ video ]
Paul de Bakker,
Research Affiliate, Broad Institute
11/5/09 The Genetic Basis of Gene Expression
[ video - Barbara Stranger ]
[ video - Chris Cotsapas ]
Barbara Stranger,
Associate Member, Broad Institute
Chris Cotsapas,
Research Affiliate, Broad Institute
11/12/09 Copy number variation in the human genome
[ video ]
Josh Korn,
Graduate Student, Broad Institute
11/19/09 The Human Haplotype Map and Beyond
[ video ]
Mark Daly
Senior Associate Member, Broad Institute
12/3/09 Population stratification in disease association studies
[ video ]

Alkes Price
Assistant Professor of
Statistical Genetics,
Harvard School of Public Health

12/10/09 Phenotype Definition (With Tales From Psychiatry)
[ video ]
Jordan Smoller
Associate Professor of Psychiatry,
Harvard Medical School
1/14/10 Natural Selection and Human Genetic Variation
[ video ]
Steve Schaffner
Computational Biologist,
Broad Institute
2/25/10 Mouse Genetics
[ video ]
David Beier
Professor, Department of Medicine,
Harvard Medical School

Primer on Medical and Population Genetics