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
Date
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.