Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

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 c...

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Main Authors: Thormaehlen, Aenne S. (Author), Schuberth, Christian (Author), Won, Hong-Hee (Author), Blattmann, Peter (Author), Joggerst-Thomalla, Brigitte (Author), Theiss, Susanne (Author), Asselta, Rosanna (Author), Duga, Stefano (Author), Merlini, Piera Angelica (Author), Ardissino, Diego (Author), Gabriel, Stacey B. (Author), Rader, Daniel J. (Author), Peloso, Gina M. (Author), Pepperkok, Rainer (Author), Kathiresan, Sekar (Author), Runz, Heiko (Author), Lander, Eric Steven (Author)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor), Lander, Eric S. (Contributor)
Format: Article
Language:English
Published: Public Library of Science, 2015-02-17T16:00:40Z.
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