ReliableGenome: annotation of genomic regions with high/low variant calling concordance

MOTIVATION: The increasing adoption of clinical whole-genome resequencing (WGS) demands for highly accurate and reproducible variant calling (VC) methods. The observed discordance between state-of-the-art VC pipelines, however, indicates that the current practice still suffers from non-negligible nu...

Descripción completa

Detalles Bibliográficos
Autores principales: Popitsch, Niko, Schuh, Anna, Taylor, Jenny C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903559/
https://www.ncbi.nlm.nih.gov/pubmed/27605105
http://dx.doi.org/10.1093/bioinformatics/btw587

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903559/
https://www.ncbi.nlm.nih.gov/pubmed/27605105
http://dx.doi.org/10.1093/bioinformatics/btw587

Ejemplares similares