%0 Journal Article
%T Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer
%A Alex Kentsis
%A Anne-Katrin Emde
%A Avinash Abhyankar
%A David Lin
%A Depinder Khaira
%A Dina Manaa
%A Dino Robinson
%A Esra Dikoglu
%A Ferrah London
%A Govind Bhagat
%A Heather Geiger
%A Kanika Arora
%A Kazimierz O. Wrzeszczynski
%A Lukasz Kozon
%A Mahesh M. Mansukhani
%A Michelle F. Lamendola-Essel
%A Minita Shah
%A Nicolas Robine
%A Olca Basturk
%A Umesh Bhanot
%A Vaidehi Jobanputra
%A Vanessa Felice
%A Xiaolan Fang
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.06.007
%X 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 State's Department
of Health next-generation DNA sequencing guidelines were expanded for establishing
performance validation applicable to whole-genome and transcriptome sequencing.
%U https://jmd.amjpathol.org/article/S1525-1578(17)30621-9/fulltext