Current Environment:

Genetic Research Webinars | Overview

The Manton Center partnered with the office of the Chief Scientific Officer and Boston Children's Hospital Research Computing to co-host a webinar series in which prominent scientists from around the world presented innovate research related to a specific publication or work in progress.

Past Webinars


Webinar information

September 22

Ryan Collins, PhD, Candidate, Broad Institute, MGH and HMS
Topic: Collins et al., A structural variation reference for medical and population genetics. Nature. 2020 May;581(7809):444-45.

September 4

Nicola Whiffin, PhD, Broad Institute
Topic: Whiffin et al., Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals. Nat Commun. 2020 May 27;11(1):2523.

August 4

Michael Inouye, PhD, University of Cambridge Topic: Lambert et al., The Polygenic Score Catalog: an open database for reproducibility and systematic evaluation. MedRxiv. 2020 05.20.20108217.

July 14

Michael Wangler, MD, Baylor College of Medicine
Topic: Schulze et al., Biases in arginine codon usage correlate with genetic disease risk. Genet Med. 2020; Aug;22(8):1407-1412.

June 23

Andrew Sharp, PhD, Mount Sinai School of Medicine
Topic: Garg et al., A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions. BioRxiv. 2020 03.25.007864.

June 2

Dennis Lal, PhD, University of Cologne, Massachusetts General Hospital, Broad Institute, and Cleveland Clinic.
Topic: Pérez-Palma et al., Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020 Jan;30(1):62-71.

May 26

Tomasz J. Nowakowski, PhD, UCSF
Topic: Ziffra et al., Single cell epigenomic atlas of the developing human brain and organoids. BioRxiv. 2019 12.30.891549.

May 19

Rachid Karam, MD, PhD, Ambry Genetics
Topic: Landrith et al. Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. NPJ Precis Oncol. 2020 Feb 24;4:4.

May 12

Sandeep Robert Datta, MD, PhD, Harvard Medical School
Topic: Brann et al. Non-neural expression of SARS-CoV-2 entry genes in the olfactory epithelium suggests mechanisms underlying anosmia in COVID-19 patients. BioRxiv. 2020 03.25.009084.

May 5

Anders Bergstrom, PhD Wellcome Sanger Institute and The Francis Crick Institute. Topic” Bergstrom et al. Insights into human genetic variation and population history from 929 diverse genomes. Science, 2020; Mar 20;367(6484):eaay5012.

April 21

Bekim Sadikovic, PhD, DABMG, FACMG, London Health Sciences Centre and Western University
Topic: Sadikovic et al., DNA methylation signatures in Mendelian developmental disorders as a diagnostic bridge between genotype and phenotype. Epigenomics. 2019 Apr;11(5):563-575.

April 14

Jason L. Stein, PhD, University of North Carolina — Chapel Hill
Grasby KL, et al., The Genetic architecture of the human cerebral cortex. Science. 2020; Mar 20;367(6484):eaay6690 and Liang et al., Cell-type specific effects of genetic variation on chromatin accessibility during human neuronal differentiation. BioRXiv. 2020 01.13.904862.

April 7

Diana Barall, MD, FRCP, University of Southampton.
Topic: Wai et al., Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genet Med. 2020 Jun;22(6):1005-1014.

March 31

Willem Ouwehand, MD, PhD, and Ernest Turro, PhD, MSc, University of Cambridge.
Topic: Turro et al., Whole-genome sequencing of rare disease patients in a national healthcare system, Nature. 2020 Jul;583(7814):96-102.


This page was last updated November 23, 2020.