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Article

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

Clinical genetics - 1 Jan 2018

Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K

Abstract excerpt

BACKGROUND: In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. MATERIALS AND METHODS: Here we report the results of the 501 first unselected cases for whom TruSight One panel (Illumina Inc., San Diego, California) was sequenced as a clinical diagnostic test...

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PMID: 28378410
DOI: 10.1111/cge.13031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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