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FVC as an adaptive and accurate method for filtering variants from popular NGS analysis pipelines

The quality control of variants from whole-genome sequencing data is vital in clinical diagnosis and human genetics research. However, current filtering methods (Frequency, Hard-Filter, VQSR, GARFIELD, and VEF) were developed to be utilized on particular variant callers and have certain limitations....

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Detalles Bibliográficos
Autores principales: Ren, Yongyong, Kong, Yan, Zhou, Xiaocheng, Genchev, Georgi Z., Zhou, Chao, Zhao, Hongyu, Lu, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481582/
https://www.ncbi.nlm.nih.gov/pubmed/36114280
http://dx.doi.org/10.1038/s42003-022-03397-7