Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings

Comprehensive and accurate detection of variants from whole-genome sequencing (WGS) is a strong prerequisite for translational genomic medicine; however, low concordance between analytic pipelines is an outstanding challenge. We processed a European and an African WGS samples with 70 analytic pipeli...

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Detalles Bibliográficos
Autores principales: Hwang, Kyu-Baek, Lee, In-Hee, Li, Honglan, Won, Dhong-Geon, Hernandez-Ferrer, Carles, Negron, Jose Alberto, Kong, Sek Won
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/PMC6397176/
https://www.ncbi.nlm.nih.gov/pubmed/30824715
http://dx.doi.org/10.1038/s41598-019-39108-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397176/
https://www.ncbi.nlm.nih.gov/pubmed/30824715
http://dx.doi.org/10.1038/s41598-019-39108-2

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