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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

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