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

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...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: 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
Wydane: Wiley 2018

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