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Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing.

The Journal of molecular diagnostics : JMD - 1 Aug 2026

Yang Yao, Hammond Nathan A, Tong Pun Wai, Ho Chandler, Watson Nathaniel, Liao Linda, Tan Tina, Chen Lei, Dumas Kevin, Fisk Dianna, Grove Megan E, Hale Caitlin, Ng Zena, Park Young, Reavey Caitlin, Smith Emma E, Weymouth Katelyn S, White Shana, Spiteri Elizabeth, Qiao Wanqiong, Ashley Euan A, Scott Stuart A

Abstract excerpt

Genome sequencing is commonly used for genetic disease research; however, most clinical laboratories use enrichment-based targeted sequencing for diagnostic panels and exome testing. To facilitate the implementation of clinical genome-based panel testing, short-read genome sequencing (≥40×) was subjected to analytical validation, including single-nucleotide variant (SNV), insertion/deletion (indel), and copy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 42214485
DOI: 10.1016/j.jmoldx.2026.05.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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