Article
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Nature communications - 27 Oct 2023
Steyaert Wouter, Haer-Wigman Lonneke, Pfundt Rolph, Hellebrekers Debby, Steehouwer Marloes, Hampstead Juliet, de Boer Elke, Stegmann Alexander, Yntema Helger, Kamsteeg Erik-Jan, Brunner Han, Hoischen Alexander, Gilissen Christian
Abstract excerpt
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 accurately identifies single nucleotide variants and small insertions/deletions (SNVs/Indels), copy number variants and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.