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Article

Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.

American journal of medical genetics. Part A - 1 Dec 2022

Nazeha Nuraini, Koh Ai Ling, Kam Sylvia, Lim Jiin Ying, Goh Denise Li Meng, Jamuar Saumya Shekhar, Graves Nicholas

Abstract excerpt

Children with genetic diseases endure a prolonged and costly "diagnostic odyssey." The use of whole exome sequencing (WES) and whole genome sequencing (WGS) has improved the diagnosis rate, ending the odyssey. However, the additional costs associated WES/WGS has impeded their adoption in Asian settings. We aim to estimate the expected change to the mean number of diagnostic tests used, and the associated costs...

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Identifiers

PMID: 36156406
DOI: 10.1002/ajmg.a.62974

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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