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Article

Genome analysis and knowledge-driven variant interpretation with TGex.

BMC medical genomics - 30 Dec 2019

Dahary Dvir, Golan Yaron, Mazor Yaron, Zelig Ofer, Barshir Ruth, Twik Michal, Iny Stein Tsippi, Rosner Guy, Kariv Revital, Chen Fei, Zhang Qiang, Shen Yiping, Safran Marilyn, Lancet Doron, Fishilevich Simon

Abstract excerpt

BACKGROUND: The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant genetic variations underlying a patient's phenotypes and symptoms. The adoption of Whole Genome Sequencing requires novel capacities for interpretation of non-coding variants. RESULTS: We present...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31888639
DOI: 10.1186/s12920-019-0647-8
PMCID: PMC6937949

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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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