Genetic Research Webinars |Overview
曼顿中心与办公室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.
2020 calendar
Date
Webinar information
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.
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.
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.
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.
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.
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.
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.
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.
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.
Anders Bergstrom, PhDWellcome 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.
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.
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.,特异性遗传变异的影响chromatin accessibility during human neuronal differentiation.BioRXiv. 2020 01.13.904862.
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.
Willem Ouwehand, MD, PhD, andErnest 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.