P
Pejaver
Researcher at Indiana University
Publications - 1
Citations - 163
Pejaver is an academic researcher from Indiana University. The author has an hindex of 1, co-authored 1 publications receiving 151 citations.
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MutPred2: inferring the molecular and phenotypic impact of amino acid variants
Pejaver,Jorge Urresti,Jose Lugo-Martinez,Kymberleigh A. Pagel,Guan Ning Lin,Hyun-Jun Nam,Matthew Mort,David Neil Cooper,Jonathan Sebat,Lilia M. Iakoucheva,Sean D. Mooney,Predrag Radivojac +11 more
TL;DR: The utility of MutPred2 is demonstrated in the identification of the structural and functional mutational signatures relevant to Mendelian disorders and the prioritization of de novo mutations associated with complex neurodevelopmental disorders and it is argued that mechanism-driven studies of human inherited diseases have the potential to significantly accelerate the discovery of clinically actionable variants.