Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

Differentiation between phenotypically neutral and disease-causing genetic variation remains an open and relevant problem. Among different types of variation, non-frameshifting insertions and deletions (indels) represent an understudied group with widespread phenotypic consequences. To address this...

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Bibliographic Details
Main Authors: Kymberleigh A Pagel, Danny Antaki, AoJie Lian, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-06-01
Series:PLoS Computational Biology
Online Access:https://doi.org/10.1371/journal.pcbi.1007112