Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

Abstract Background Next-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains informa...

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Bibliographic Details
Main Authors: R. Michael Sivley, Jonathan H. Sheehan, Jonathan A. Kropski, Joy Cogan, Timothy S. Blackwell, John A. Phillips, William S. Bush, Jens Meiler, John A. Capra
Format: Article
Language:English
Published: BMC 2018-01-01
Series:BMC Bioinformatics
Online Access:http://link.springer.com/article/10.1186/s12859-018-2010-z

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http://link.springer.com/article/10.1186/s12859-018-2010-z

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