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Article

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Genome medicine - 29 Jul 2015

Wang Jinlian, Liao Jun, Zhang Jinglan, Cheng Wei-Yi, Hakenberg Jörg, Ma Meng, Webb Bryn D, Ramasamudram-Chakravarthi Rajasekar, Karger Lisa, Mehta Lakshmi, Kornreich Ruth, Diaz George A, Li Shuyu, Edelmann Lisa, Chen Rong

Abstract excerpt

Routine clinical application of whole exome sequencing remains challenging due to difficulties in variant interpretation, large dataset management, and workflow integration. We describe a tool named ClinLabGeneticist to implement a workflow in clinical laboratories for management of variant assessment in genetic testing and disease diagnosis. We established an extensive variant annotation data source for the...

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Identifiers

PMID: 26338694
DOI: 10.1186/s13073-015-0207-6
PMCID: PMC4558641

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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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