Ryan Tewhey
@tewhey.bsky.social
460 followers
85 following
2 posts
Associate Professor at The Jackson Laboratory -- Studying gene regulation, genetic variation & human complex traits.
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Reposted by Ryan Tewhey
John Ray
@jraylab.bsky.social
· 20d
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks - Nature Genetics
Massively parallel reporter assay in primary human CD4+ T cells and bulk and single-cell CRISPR-interference screens identify candidate causal variants linked to autoimmune disease risk that modulate ...
www.nature.com
Reposted by Ryan Tewhey
Reposted by Ryan Tewhey
Doug Fowler
@dougfowler.bsky.social
· Jul 21
Multiplexed assays of variant effect for clinical variant interpretation
Nature Reviews Genetics - Multiplexed assays of variant effect (MAVEs) are highly scalable experimental approaches used to generate functional data for genetic variants. In this Review, McEwen et...
www.nature.com
Reposted by Ryan Tewhey
Doug Fowler
@dougfowler.bsky.social
· May 15
Atlas of Variant Effects 2030 Roadmap: resolving human variants of uncertain significance
At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering gen...
zenodo.org
Reposted by Ryan Tewhey
Reposted by Ryan Tewhey
Amy Maxmen, PhD
@amymaxmen.bsky.social
· Mar 21
Reposted by Ryan Tewhey
Vikram Agarwal
@vagar.bsky.social
· Jan 9
Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation - Nature Genetics
Borzoi adapts the Enformer sequence-to-expression model to directly predict RNA-seq coverage, enabling the in-silico analysis of variant effects across multiple layers of gene regulation.
www.nature.com
Reposted by Ryan Tewhey
Anshul Kundaje
@anshulkundaje.bsky.social
· Dec 25
Ryan Tewhey
@tewhey.bsky.social
· Dec 13