Article
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018
Robbe Pauline, Popitsch Niko, Knight Samantha J L, Antoniou Pavlos, Becq Jennifer, He Miao, Kanapin Alexander, Samsonova Anastasia, Vavoulis Dimitrios V, Ross Mark T, Kingsbury Zoya, Cabes Maite, Ramos Sara D C, Page Suzanne, Dreau Helene, Ridout Kate, Jones Louise J, Tuff-Lacey Alice, Henderson Shirley, Mason Joanne, Buffa Francesca M, Verrill Clare, Maldonado-Perez David, Roxanis Ioannis, Collantes Elena, Browning Lisa, Dhar Sunanda, Damato Stephen, Davies Susan, Caulfield Mark, Bentley David R, Taylor Jenny C, Turnbull Clare, Schuh Anna
Abstract excerpt
PURPOSE: Fresh-frozen (FF) tissue is the optimal source of DNA for whole-genome sequencing (WGS) of cancer patients. However, it is not always available, limiting the widespread application of WGS in clinical practice. We explored the viability of using formalin-fixed, paraffin-embedded (FFPE) tissues, available routinely for cancer patients, as a source of DNA for clinical WGS. METHODS: We conducted a...
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