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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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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Zhao, Sen, Agafonov, Oleg, Azab, Abdulrahman, Stokowy, Tomasz, Hovig, Eivind
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7678823/
https://ncbi.nlm.nih.gov/pubmed/33214604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-77218-4
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