Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling

Abstract Clinical whole-exome sequencing (WES) has revolutionized clinical diagnostics by enabling scalable, cost-effective molecular profiling to detect somatic variants and identify novel therapeutic targets. In particular, the clinical evaluation of somatic variants relies on both high-quality se...

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Principais autores:	Junko Tsuji, Micah Rickles-Young, Justin Abreu, Alyssa Friedman, Caroline Petersen, J. Bryan, Konrad Scheffler, Taylor O’Connell, Theo Heyns, Edyta Malolepsza, Mark Fleharty, Katie Larkin, Kenneth J. Livak, Shuqiang Li, David A. Reardon, Catherine J. Wu, Patrick A. Ott, Fanny Dao, Heidi Rehm, Max Jan, Chip Stewart, Gad Getz, Varun Jain, Severine Catreux, Carrie Cibulskis, Niall Lennon
格式:	Artigo
語言:	Inglês
出版:	Nature Portfolio 2026-04-01
叢編:	npj Genomic Medicine
在線閱讀:	https://doi.org/10.1038/s41525-026-00569-w
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