DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome Sequencing

The discovery of low-coverage (i.e. uncovered) regions containing clinically significant variants, especially when they are related to the patient’s clinical phenotype, is critical for whole-exome sequencing (WES) based clinical diagnosis. Therefore, it is essential to develop tools to identify the...

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Detalles Bibliográficos
Autores principales: Türk, Erdem, Ayaz, Akif, Yüksek, Ayhan, Süzek, Barış E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2023
Materias:
Bioinformatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506587/
https://www.ncbi.nlm.nih.gov/pubmed/37727687
http://dx.doi.org/10.7717/peerj.16026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506587/
https://www.ncbi.nlm.nih.gov/pubmed/37727687
http://dx.doi.org/10.7717/peerj.16026

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