Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL-Reference-Cited by-同舟云学术

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

Published:2018-05-29 Issue:3 Volume:182 Page:412-417
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Klintman Jenny¹^ORCID,Barmpouti Katerina¹²,Knight Samantha J. L.³⁴,Robbe Pauline¹⁵,Dreau Hélène¹²,Clifford Ruth¹⁵⁶,Ridout Kate¹,Burns Adam¹,Timbs Adele²,Bruce David¹²,Antoniou Pavlos⁷,Sosinsky Alona⁷,Becq Jennifer⁸,Bentley David⁸,Hillmen Peter⁹,Taylor Jenny C.³⁴,Caulfield Mark⁶,Schuh Anna H.¹²⁴

Affiliation:

1. Molecular Diagnostic Centre; Department of Oncology; University of Oxford; Oxford UK

2. Oxford University Hospitals; Oxford UK

3. NIHR Biomedical Research Centre; Oxford and Wellcome Trust Centre for Human Genetics; University of Oxford; Oxford UK

4. Oxford Biomedical Research Centre; Oxford UK

5. Nuffield Department of Laboratory Sciences; University of Oxford; Oxford UK

6. Haematology Department; University Hospital Limerick; Limerick Ireland

7. Genomics England; London UK

8. Illumina; Chesterford UK

9. St James’ Institute of Oncology; St James’ University Hospital; Leeds UK

Funder

National Institute for Health Research

Department of Health's NIHR Biomedical Research Centres UK

Health Innovation Challenge Fund, UK

Wellcome Trust

Department of Health UK

The Royal Swedish Academy of Sciences

Sveriges Läkarförbund

Lund University Sweden

The Royal Physiographic Society of Lund, Sweden

The Swedish National Health Services

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.15406/fullpdf

Reference16 articles.

1. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing;Alioto;Nature Communications,2015

2. Clinicopathological features and outcomes of progression of CLL on the BCL2 inhibitor venetoclax;Anderson;Blood,2017

3. Genomic aberrations and survival in chronic lymphocytic leukemia;Döhner;The New England Journal of Medicine,2000

4. Results of the randomized phase IIB ARCTIC trial of low-dose rituximab in previously untreated CLL;Howard;Leukemia,2017

5. Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia;Knight;Leukemia,2012

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5. A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias;Frontiers in Medicine;2022-03-24

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