During 2016-2017, I hosted a Seminar series for the Broad Center of Mendelian Genomics on topics of interest to the Rare disease research community. In 2018, this seminar series moved to the Yale Center of Mendelian Genomics along with me!

July 2016

Title: Using regional missense constraint to prioritize de novo variants identified in patients with a neurodevelopmental disorder
Presenter: Kaitlin Samocha (Daly lab)
Link to recording


August 2016

Title: VQSR: A Machine Learning Approach to Custom Callset Filtration
Presenter: Laura Gauthier (Broad Institute DSDE)
Link to recording

Title: Hail: Scaling Genomic Data Analysis
Presenter: Cotton Seed, Tim Poterba, Laurent Francioli and Kyle Satterstrom (Neale lab)
Link to recording


September 2016

Title: Using high-resolution variant frequencies to empower clinical genome interpretation
Presenter: James Ware (MacArthur and Seidman lab)
Link to recording

Title: Population-based penetrance estimation in rare diseases
Presenter: Eric Minikel (MacArthur lab)
Link to recording

Title: Interpretation of missense variants using protein structures and features
Presenter: Jakob Jespersen (Lage lab)
Link to recording


November 2016

Title: Using GeNets for disease research
Presenter: Kasper Lage (Lage lab)
Link to recording

Title: Genome-wide significance testing of variation from single case exomes
Presenter: Amy Wilfert and Don Conrad (Conrad lab)
Link to recording


December 2016

Title: Gene discovery efforts at the Manton Center
Presenter: Pankaj Agrawal (Manton Center for Orphan Diseases)
Link to recording

Title: Biallelic mutations in human accelerated regions (HARs) are associated with abnormal social and cognitive behavior
Presenter: Ryan Doan (Walsh lab)
Link to recording

January 2017

Title: Epigenetic consequences of rare missense mutations contributing to congenital arhinia and an oligogenic form of muscular dystrophy
Presenter: Harrison Brand (Talkowski lab)
Link to recording

Title: Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Presenter: Anne Gregor (Gleeson lab)
Link to recording

Title: Defects of the nuclear pore proteins NUP93, NUP205, and exportin 5 link monogenic forms of nephrotic syndrome to alterations in SMAD signaling
Presenter: Daniela Braun (Hildebrandt lab)
Link to recording


February 2017

Title: Investigating Inherited Retinal Degenerations
Presenter: Kinga Bujakowska (Pierce lab)
Link to recording

Title: Diagnosis of DMD patients using human myotubes
Presenter: Jamie Marshall (MacArthur lab)
Link to recording


April 2017

Title: Actionable Findings and Discoveries in MYOSEQ
Presenter: Ana Topf and Katherine Johnson (Newcastle University)
Link to recording


July 2017

Title: Genetic Studies of Human Hematopoietic Disorders
Presenter: Vijay Sankaran (Sankaran lab)
Link to recording


August 2017

Title: An Update on Return of Genomic Results in Research
Presenter: Robert Green (Green lab)
Link to recording


April 2018

Title: The human noncoding genome defined by genetic diversity
Presenter: Julia di Iulio
Link to recording
Title: CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
Presenter: Molly Gasperini (Shendure lab)
Link to recording


May 2018

Title: De novo mutations in regulatory elements in neurodevelopmental disorders
Presenter: Patrick Short
Link to recording
Title: Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
Presenter: Alexis Komor
Link to recording


June 2018

Title: De novo and transmitted mutations in Congenital Heart Disease
Presenter: Sheng Chih Jin
Link to recording


July 2018

Title: The Centers for Mendelian Genomics: Lessons Learned from a Family-based Approach to Genomics
Presenter: Jennifer Posey
Link to recording


January 2019

Title: Summary of the CMG unsolved working group, its goals and key lessons learned
Presenter: Elizabeth Blue
Link to recording


February 2019

Title: Large Scale Pediatric Genetics and Genomics Research: Gabriella Miller Kids First and the Pediatric Cell Atlas
Presenter: Deanne Taylor
Link to recording


March 2019

Title: Next-generation phenotyping using DeepGestalt in clinic, research and variant analysis
Presenter: Karen Gripp
Link to recording


March 2019

Title: Genetic diagnosis of Mendelian disorders via RNA sequencing
Presenter: Laura Kremer
Link to recording


March 2019

Title: Pathogenic variants in XYLT1 in Baratela-Scott syndrome: a molecular diagnostic odyssey
Presenter: Heather Mefford
Link to recording


April 2019

Title: Characterising the loss-of-function impact of 5′ untranslated region variants in whole genome sequence data from 15,708 individuals
Presenter: Nicky Whiffin
Link to recording
Title: A catalog of predicted functional upstream open reading frames: a resource for rare disease research
Presenter: Patrick McGillivray
Link to recording


May 2019

Title: NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans
Presenter: Antonio Rausell
Link to recording
Title: Human 5′ UTR design and variant effect prediction from a massively parallel translation assay
Presenter: Georg Seelig
Link to recording