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Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance

The success of next-generation sequencing depends on the accuracy of variant calls. Few objective protocols exist for QC following variant calling from whole genome sequencing (WGS) data. After applying QC filtering based on Genome Analysis Tool Kit (GATK) best practices, we used genotype discordanc...

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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Adelson, Robert P., Renton, Alan E., Li, Wentian, Barzilai, Nir, Atzmon, Gil, Goate, Alison M., Davies, Peter, Freudenberg-Hua, Yun
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6834861/
https://ncbi.nlm.nih.gov/pubmed/31695094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-52614-7
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