Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets

Abstract Accurate variant calling from whole-exome sequencing (WES) data is vital for understanding genetic diseases. Recently, commercial variant calling software have emerged that do not require bioinformatics or programming expertise, hence enabling independent analysis of WES data by smaller lab...

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Principais autores:	Matthew Wong, Bryan Liew, Melissa Hum, Ning Yuan Lee, Ann S. G. Lee
Formato:	Artigo
Idioma:	Inglês
Publicado:	Nature Portfolio 2025-04-01
Series:	Scientific Reports
Assuntos:	Benchmarking Variant calling Whole-exome sequencing No-programming software GIAB.
Acceso en liña:	https://doi.org/10.1038/s41598-025-97047-7
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