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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Detalles Bibliográficos
Autores principales: Adelson, Robert P., Renton, Alan E., Li, Wentian, Barzilai, Nir, Atzmon, Gil, Goate, Alison M., Davies, Peter, Freudenberg-Hua, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834861/
https://www.ncbi.nlm.nih.gov/pubmed/31695094
http://dx.doi.org/10.1038/s41598-019-52614-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834861/
https://www.ncbi.nlm.nih.gov/pubmed/31695094
http://dx.doi.org/10.1038/s41598-019-52614-7

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