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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 publication




Conference paper

Publication Date





412 - 417


CLL, Genomics England, chronic lymphocytic leukaemia, precision medicine, whole genome sequencing, Adult, Aged, DNA Copy Number Variations, Female, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation, Leukemia, Lymphocytic, Chronic, B-Cell, Male, Middle Aged, Polymorphism, Single Nucleotide, Whole Genome Sequencing