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.

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