Accuracy and efficiency of germline variant calling pipelines for human genome data

Advances in next-generation sequencing technology have enabled whole genome sequencing (WGS) to be widely used for identification of causal variants in a spectrum of genetic-related disorders, and provided new insight into how genetic polymorphisms affect disease phenotypes. The development of diffe...

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Detalles Bibliográficos
Autores principales: Zhao, Sen, Agafonov, Oleg, Azab, Abdulrahman, Stokowy, Tomasz, Hovig, Eivind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678823/
https://www.ncbi.nlm.nih.gov/pubmed/33214604
http://dx.doi.org/10.1038/s41598-020-77218-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678823/
https://www.ncbi.nlm.nih.gov/pubmed/33214604
http://dx.doi.org/10.1038/s41598-020-77218-4

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