Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Abstract The short lengths of short-read sequencing reads challenge the analysis of paralogous genomic regions in exome and genome sequencing data. Most genetic variants within these homologous regions therefore remain unidentified in standard analyses. Here, we present a method (Chameleolyser) that...

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Bibliographic Details
Main Authors: Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen
Format: Article
Language:English
Published: Nature Portfolio 2023-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-42531-9

Internet

https://doi.org/10.1038/s41467-023-42531-9

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