The Manton Center for Orphan Disease Research | Genetic Research Webinars

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, 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.

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., Cell-type specific effects of genetic variation on 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, 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.