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.
Original language | English |
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Pages (from-to) | 412-417 |
Number of pages | 6 |
Journal | British Journal of Haematology |
Volume | 182 |
Issue number | 3 |
DOIs | |
Publication status | Published - Aug 2018 |
Externally published | Yes |
Keywords
- CLL
- Genomics England
- chronic lymphocytic leukaemia
- precision medicine
- whole genome sequencing