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

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 accurate...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10611741/
https://www.ncbi.nlm.nih.gov/pubmed/37891200
http://dx.doi.org/10.1038/s41467-023-42531-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10611741/
https://www.ncbi.nlm.nih.gov/pubmed/37891200
http://dx.doi.org/10.1038/s41467-023-42531-9

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