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

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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Bibliographic Details
Main Authors: Matthew Wong, Bryan Liew, Melissa Hum, Ning Yuan Lee, Ann S. G. Lee
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Subjects:
Benchmarking
Variant calling
Whole-exome sequencing
No-programming software
GIAB.
Online Access:https://doi.org/10.1038/s41598-025-97047-7
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