| Literature DB >> 29808933 |
Jenny Klintman1, Katerina Barmpouti1,2, Samantha J L Knight3,4, Pauline Robbe1,5, Hélène Dreau1,2, Ruth Clifford1,5,6, Kate Ridout1, Adam Burns1, Adele Timbs2, David Bruce1,2, Pavlos Antoniou7, Alona Sosinsky7, Jennifer Becq8, David Bentley8, Peter Hillmen9, Jenny C Taylor3,4, Mark Caulfield6, Anna H Schuh1,2,4.
Abstract
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 low-frequency TP53 variants. Copy number alteration detection was verified by fluorescent in situ hybridisation and genome-wide single nucleotide polymorphism array (concordances of 86·7% and 92·9%, respectively), confirming adequate sensitivity by WGS. Our results confirm that WGS can provide comprehensive genomic characterisation for clinical trials, drug discovery and, ultimately, precision medicine.Entities:
Keywords: CLL; Genomics England; chronic lymphocytic leukaemia; precision medicine; whole genome sequencing
Mesh：
Year: 2018 PMID： 29808933 DOI： 10.1111/bjh.15406
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998