CMAP team presents work at the Mutational Scanning Symposium

CMAP’s Doug Fowler was one of the Keynote speakers for #VariantEffect22 ! "What do we need to scale multiplexed assays to all the genes in the genome?" and Shawn Fayer (Starita and Fowler lab /UW) and Jochen Weile (Roth lab/ UT) both spoke on the topic of translating multiplexed functional data into clinical evidence. (Illustrations by Alex Cagan)

CMAP presenters also included:

Matt Berg (Villén lab) on “Engineering and characterizing alanine mistranslation tRNA for proteome-wide alanine scanning” (Poster)

Atina Cote (Roth lab) Multiplexed assays of low-density lipoprotein receptor (LDLR) variant effects (Poster)

Moez Dawood (CMAP Intern Starita lab) “Saturation genome editing reveals 10% of misssense SNVs in functional domains of PALB2 as functionally abnormal” (Poster and lightning talk)

Clayton Friedman (CMAP fellow) “Multiplexed functional assay of MYH7 variants associated with hypertrophic cardiomyopathy in gene-edited human cardiomyocytes” (Poster)

Marinella Gebbia (Roth Lab) “A missense variant effect map for the CHECK2 tumor suppressor” (Poster)

Sophie Moggridge (Villén lab UW) on “Interrogating protein variant dysfunction using multidimensional proteomics.” (Poster and lightning talk)

Vanessa Nguyen (Fowler lab) “Molecular determinants of Hsp90 recognition of Src kinase revealed by deep mutational scanning” (Poster)

Curran Oi (Queitsch lab) “Deep mutational scanning in whole organisms” (Poster)

Nicolas Popp (Fowler lab) “A novel method to profile missense variation at scale for extracellular proteins reveals biochemical features important for expression and secretion of Factor IX” (Poster)