Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do...

Full description

Bibliographic Details
Main Authors: Sofie V Nielsen, Amelie Stein, Alexander B Dinitzen, Elena Papaleo, Michael H Tatham, Esben G Poulsen, Maher M Kassem, Lene J Rasmussen, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-04-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5415204?pdf=render