Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL

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...

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Bibliographic Details
Main Authors:	Klintman, J, Barmpouti, K, Knight, S, Robbe, P, Dreau, H, Clifford, R, Ridout, K, Burns, A, Timbs, A, Bruce, D, Antoniou, P, Sosinsky, A, Becq, J, Bentley, D, Hillmen, P, Taylor, J, Caulfield, M, Schuh, A
Format:	Conference item
Published:	Wiley 2018

Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL

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