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

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 fl...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1111/bjh.15406

Authors


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Role:
Author
ORCID:
0000-0002-9544-5058
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Role:
Author
ORCID:
0000-0002-6047-3462
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Name:
Health Innovation Challenge Fund, UK
Grant:
HICF-1009-026
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Name:
Wellcome Trust UK
Grant:
076113
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Name:
The Royal Swedish Academy of Sciences
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Name:
The Royal Physiographic Society of Lund, Sweden
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Name:
Swedish Medical Association
Publisher:
Wiley
Host title:
British Journal of Haematology
Journal:
British Journal of Haematology More from this journal
Volume:
182
Issue:
3
Pages:
412-417
Publication date:
2018-05-29
Acceptance date:
2018-04-09
Event location:
England
DOI:
EISSN:
1365-2141
ISSN:
0007-1048
Pmid:
29808933
Keywords:
Pubs id:
pubs:846756
UUID:
uuid:8e0a30ea-302a-4d4f-8aad-8e0da8e9d1b0
Local pid:
pubs:846756
Source identifiers:
846756
Deposit date:
2019-05-29

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