Article

Eight years of outsourced whole-exome sequencing for pediatric-onset rare disease in a Taiwanese tertiary genetics centre: diagnostic yield in 227 patients across five commercial laboratories (2018–2025)

2026-09-01

Abstract excerpt

<title>Abstract</title> <p>Background Whole-exome sequencing (WES) has become first-tier testing for pediatric-onset rare disease, with diagnostic yields of 27%–40% reported from major in-house cohorts in Western settings. In Taiwan, as in much of Asia, clinical WES is delivered almost entirely through commercial outsourcing rather than through institutional sequencing facilities. The structural consequences of...

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Literature Corpus work: 511a4b96-de99-5cb9-b4a8-b1c478b8cbfd
DOI: 10.21203/rs.3.rs-9775798/v1

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