Article
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
PLoS genetics - 1 Feb 2015
Thormaehlen Aenne S, Schuberth Christian, Won Hong-Hee, Blattmann Peter, Joggerst-Thomalla Brigitte, Theiss Susanne, Asselta Rosanna, Duga Stefano, Merlini Pier Angelica, Ardissino Diego, Lander Eric S, Gabriel Stacey, Rader Daniel J, Peloso Gina M, Pepperkok Rainer, Kathiresan Sekar, Runz Heiko
Abstract excerpt
A fundamental challenge to contemporary genetics is to distinguish rare missense alleles that disrupt protein functions from the majority of alleles neutral on protein activities. High-throughput experimental tools to securely discriminate between disruptive and non-disruptive missense alleles are currently missing. Here we establish a scalable cell-based strategy to profile the biological effects and likely...
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