Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer.

doi:10.1016/j.jmoldx.2018.06.007

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Article

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer.

The Journal of molecular diagnostics : JMD - 1 Nov 2018

Wrzeszczynski Kazimierz O, Felice Vanessa, Abhyankar Avinash, Kozon Lukasz, Geiger Heather, Manaa Dina, London Ferrah, Robinson Dino, Fang Xiaolan, Lin David, Lamendola-Essel Michelle F, Khaira Depinder, Dikoglu Esra, Emde Anne-Katrin, Robine Nicolas, Shah Minita, Arora Kanika, Basturk Olca, Bhanot Umesh, Kentsis Alex, Mansukhani Mahesh M, Bhagat Govind, Jobanputra Vaidehi

Abstract excerpt

We developed and validated a clinical whole-genome and transcriptome sequencing (WGTS) assay that provides a comprehensive genomic profile of a patient's tumor. The ability to fully capture the mappable genome with sufficient sequencing coverage to precisely call DNA somatic single nucleotide variants, insertions/deletions, copy number variants, structural variants, and RNA gene fusions was analyzed. New York...

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Identifiers

PMID: 30138725
DOI: 10.1016/j.jmoldx.2018.06.007
PMCID: PMC6198246

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

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