Evidence map›Paper›PMID 36333502›Full record

ArticleNature genetics2022

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.

Pauline Robbe, Kate E Ridout, Dimitrios V Vavoulis, Helene Dréau, Ben Kinnersley, Nicholas Denny, Daniel Chubb, Niamh Appleby, Anthony Cutts, Alex J Cornish and 33 more

Open access · hybridAbstract read
In one paragraph

Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed
12.9field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

48 citing papers in PubMed, 73 citations in OpenAlex.

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  6. ComplexInternational journal of molecular sciences · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

43 authors at 20 institutions in 9 countries.

Pauline Robbe *Department of Oncology, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-0691-1126
Kate E Ridout *Department of Oncology, University of Oxford, Oxford, UK.
Dimitrios V VavoulisDepartment of Oncology, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-3984-1507
Helene DréauDepartment of Oncology, University of Oxford, Oxford, UK.
Ben KinnersleyDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0003-1783-6296
Nicholas DennyDepartment of Medicine, Medical Research Council Molecular Haematology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-5351-9581
Daniel ChubbDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.
Niamh ApplebyDepartment of Oncology, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-5063-9652
Anthony CuttsDepartment of Oncology, University of Oxford, Oxford, UK.
Alex J CornishDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0002-3966-3501
Laura Lopez-PascuaUK Health Security Agency, London, UK.
Ruth CliffordDepartment of Haematology, University Hospital Limerick, Limerick, Ireland.
Adam BurnsDepartment of Oncology, University of Oxford, Oxford, UK.
Basile StamatopoulosLaboratory of Clinical Cell Therapy, Jules Bordet Institute, ULB Cancer Research Center (U-CRC)- Université Libre de Bruxelles (ULB), Brussels, Belgium.
Maite CabesOxford Molecular Diagnostics Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
Reem AlsolamiDepartment of Medical Laboratory Technology, King Abdulaziz University, Jeddah, Saudi Arabia.
Pavlos AntoniouIllumina Cambridge Ltd., Cambridge, UK.
Melanie OatesUniversity of Liverpool, Liverpool, UK.
Doriane CavalieriDepartment of Haematology, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Genomics England Research Consortium
CLL pilot consortium
Jane GibsonCancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.ORCID http://orcid.org/0000-0002-0973-8285
Anika V PrabhuRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Ron SchwessingerDepartment of Medicine, Medical Research Council Molecular Haematology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Daisy JenningsRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Terena JamesIllumina Cambridge Ltd., Cambridge, UK.
Uma MaheswariIllumina Cambridge Ltd., Cambridge, UK.
Martí Duran-FerrerBiomedical Epigenomics Group, Institut d'Investigacions Biomédiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0003-1666-5819
Piero CarninciRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Samantha J L KnightOxford University Clinical Academic Graduate School, University of Oxford Medical Sciences Division, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Robert MånssonCenter for Hematology and Regenerative Medicine Huddinge, Karolinska Institute, Stockholm, Sweden.
Jim HughesDepartment of Medicine, Medical Research Council Molecular Haematology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-8955-7256
James DaviesDepartment of Medicine, Medical Research Council Molecular Haematology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Mark RossIllumina Cambridge Ltd., Cambridge, UK.
David BentleyIllumina Cambridge Ltd., Cambridge, UK.
Jonathan C StreffordCancer Genomics, Cancer Sciences, Faculty of Medicine, Group University of Southampton, Southampton, UK.ORCID http://orcid.org/0000-0002-0972-2881
Stephen DevereuxKing's College Hospital, NHS Foundation Trust, London, UK.ORCID http://orcid.org/0000-0002-8046-0386
Andrew R PettittDepartment of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, UK.
Peter HillmenSt James's University Hospital, Leeds, UK.
Mark J CaulfieldGenomics England, London, UK.
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0002-5268-0242
José I Martín-SuberoHuman Technopole, Milan, Italy.
Anna SchuhDepartment of Oncology, University of Oxford, Oxford, UK. anna.schuh@oncology.ox.ac.uk.ORCID http://orcid.org/0000-0002-3938-8490
Genomics England · GBUniversity of Oxford · GBUniversity of Southampton · GBUniversity of Liverpool · GBIllumina (United Kingdom) · GBInstitute of Cancer Research · GBUniversity of Birmingham · GBUniversity of Leeds · GBJohn Radcliffe Hospital · GBKing's College London · GBQueen Mary University of London · GBKing's College Hospital NHS Foundation Trust · GBRIKEN Center for Integrative Medical Sciences · JPCambridge University Hospitals NHS Foundation Trust · GBCentre Hospitalier Universitaire de Clermont-Ferrand · FRConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESHuman Technopole · ITInstitució Catalana de Recerca i Estudis Avançats · ESKarolinska Institutet · SEKing Abdulaziz University · SA

Funding

Cancer Research UK 12362Cancer Research UK 23669Cancer Research UK 29370Cancer Research UK C124388Cancer Research UK C24563/A15581Cancer Research UK C2750/A23669Cancer Research UK C34999/A18087Cancer Research UK C42023/A29370Department of HealthMedical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MC_UU_00029/4Medical Research Council MR/M009203/1Medical Research Council MR/N00969X/1Medical Research Council MR/R008108/1Wellcome TrustWellcome Trust 214388
6 · The paper itself

Abstract

The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in clinical trials as part of the United Kingdom's 100,000 Genomes Project. We identify an extended catalog of recurrent coding and noncoding genetic mutations that represents a source for future studies and provide the most complete high-resolution map of structural variants, copy number changes and global genome features including telomere length, mutational signatures and genomic complexity. We demonstrate the relationship of these features with clinical outcome and show that integration of 186 distinct recurrent genomic alterations defines five genomic subgroups that associate with response to therapy, refining conventional outcome prediction. While requiring independent validation, our findings highlight the potential of whole-genome sequencing to inform future risk stratification in chronic lymphocytic leukemia.

Indexed as

Leukemia, Lymphocytic, Chronic, B-CellGenomicsHumansMutationPrognosisWhole Genome Sequencing

Identifiers

PMID36333502
PMCPMC9649442
OpenAlexW4308212068

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.