期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 182, 期 3, 页码 412-417出版社
WILEY
DOI: 10.1111/bjh.15406
关键词
chronic lymphocytic leukaemia; CLL; whole genome sequencing; Genomics England; precision medicine
类别
资金
- National Institute for Health Research (NIHR) Biomedical Research Centre, Oxford
- Department of Health's NIHR Biomedical Research Centres funding scheme
- Health Innovation Challenge Fund [HICF-1009-026]
- Wellcome Trust [090532/Z/09/Z, 076113, 085475]
- Department of Health
- Royal Swedish Academy of Sciences
- Swedish Medical Association
- Lund University Sweden
- Royal Physiographic Society of Lund, Sweden
- Swedish National Health Services (ALF)
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 insitu 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.
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