Article
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.
British journal of haematology - 1 Aug 2018
Klintman Jenny, Barmpouti Katerina, Knight Samantha J L, Robbe Pauline, Dreau Hélène, Clifford Ruth, Ridout Kate, Burns Adam, Timbs Adele, Bruce David, Antoniou Pavlos, Sosinsky Alona, Becq Jennifer, Bentley David, Hillmen Peter, Taylor Jenny C, Caulfield Mark, Schuh Anna H
Abstract excerpt
The 100 000 Genome Project aims to develop a diagnostics platform by introducing whole genome sequencing (WGS) into clinical practice. Samples from patients with chronic lymphocytic leukaemia were subjected to WGS. WGS detection of single nucleotide variants and insertion/deletions were validated by targeted next generation sequencing showing high concordance (96·3%), also for detection of sub-clonal variants and...
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