{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:22:57Z","timestamp":1783488177552,"version":"3.55.0"},"reference-count":32,"publisher":"American Society of Hematology","issue":"24","license":[{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Exome and genome sequencing has facilitated the identification of hundreds of genes and other regions that are recurrently mutated in hematologic neoplasms. The data sets from these studies theoretically provide opportunities. Quality differences between data sets can confound secondary analyses. We explore the consequences of these on the conclusions from some recent studies of B-cell lymphomas. We highlight the need for a minimum reporting standard to increase transparency in genomic research.<\/jats:p>","DOI":"10.1182\/blood.2022016095","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T21:57:01Z","timestamp":1665525421000},"page":"2549-2555","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":17,"title":["Minimal information for reporting a genomics experiment"],"prefix":"10.1182","volume":"140","author":[{"given":"Kostiantyn","family":"Dreval","sequence":"first","affiliation":[{"name":"1Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada"},{"name":"2Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-7520","authenticated-orcid":false,"given":"Paul C.","family":"Boutros","sequence":"additional","affiliation":[{"name":"3Departments of Human Genetics and Urology, University of California, Los Angeles, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2932-7800","authenticated-orcid":false,"given":"Ryan D.","family":"Morin","sequence":"additional","affiliation":[{"name":"1Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada"},{"name":"2Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"22","key":"2022121516281384200_bib1","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1056\/NEJMoa1301689","article-title":"Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia","volume":"368","author":"Ley","year":"2013","journal-title":"N Engl J Med"},{"issue":"2","key":"2022121516281384200_bib2","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/j.cell.2018.03.059","article-title":"SnapShot: TCGA-analyzed tumors","volume":"173","author":"Blum","year":"2018","journal-title":"Cell"},{"issue":"7574","key":"2022121516281384200_bib3","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nature14666","article-title":"Non-coding recurrent mutations in chronic lymphocytic leukaemia","volume":"526","author":"Puente","year":"2015","journal-title":"Nature"},{"issue":"7","key":"2022121516281384200_bib4","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1038\/s41375-021-01251-z","article-title":"Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas","volume":"35","author":"H\u00fcbschmann","year":"2021","journal-title":"Leukemia"},{"issue":"10","key":"2022121516281384200_bib5","first-page":"3879","article-title":"Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing","volume":"109","author":"Lohr","year":"2012","journal-title":""},{"issue":"1","key":"2022121516281384200_bib6","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.ccr.2013.12.015","article-title":"Widespread genetic heterogeneity in multiple myeloma: implications for targeted\u00a0therapy","volume":"25","author":"Lohr","year":"2014","journal-title":"Cancer Cell"},{"issue":"7","key":"2022121516281384200_bib7","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1182\/blood-2013-02-483727","article-title":"Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing","volume":"122","author":"Morin","year":"2013","journal-title":"Blood"},{"issue":"2","key":"2022121516281384200_bib8","doi-asserted-by":"crossref","first-page":"e20200573","DOI":"10.1084\/jem.20200573","article-title":"Genome-wide mutational signatures revealed distinct developmental paths for human B cell lymphomas","volume":"218","author":"Ye","year":"2021","journal-title":"J\u00a0Exp Med"},{"issue":"7","key":"2022121516281384200_bib9","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1182\/blood.2021013568","article-title":"Whole-genome landscape of adult T-cell leukemia\/lymphoma","volume":"139","author":"Kogure","year":"2022","journal-title":"Blood"},{"issue":"12","key":"2022121516281384200_bib10","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1182\/blood-2018-09-871418","article-title":"Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma","volume":"133","author":"Grande","year":"2019","journal-title":"Blood"},{"issue":"14","key":"2022121516281384200_bib11","doi-asserted-by":"crossref","first-page":"2118","DOI":"10.1182\/bloodadvances.2018029546","article-title":"Sporadic and endemic Burkitt lymphoma have frequent FOXO1 mutations but distinct hotspots in the AKT recognition motif","volume":"3","author":"Zhou","year":"2019","journal-title":"Blood Adv"},{"issue":"19","key":"2022121516281384200_bib12","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1182\/blood.2019001880","article-title":"The whole-genome landscape of Burkitt lymphoma subtypes","volume":"134","author":"Panea","year":"2019","journal-title":"Blood"},{"issue":"2","key":"2022121516281384200_bib13","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.cell.2017.09.027","article-title":"Genetic and functional drivers of diffuse large B\u00a0cell\u00a0lymphoma","volume":"171","author":"Reddy","year":"2017","journal-title":"Cell"},{"issue":"5","key":"2022121516281384200_bib14","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1038\/s41591-018-0016-8","article-title":"Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes","volume":"24","author":"Chapuy","year":"2018","journal-title":"Nat Med"},{"issue":"15","key":"2022121516281384200_bib15","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa1801445","article-title":"Genetics and pathogenesis of diffuse large B-cell lymphoma","volume":"378","author":"Schmitz","year":"2018","journal-title":"N\u00a0Engl J Med"},{"issue":"12","key":"2022121516281384200_bib16","doi-asserted-by":"crossref","first-page":"e1002197","DOI":"10.1371\/journal.pmed.1002197","article-title":"Histological transformation and progression in follicular lymphoma: a clonal evolution study","volume":"13","author":"Kridel","year":"2016","journal-title":"PLoS Med"},{"issue":"1","key":"2022121516281384200_bib17","doi-asserted-by":"crossref","first-page":"4001","DOI":"10.1038\/s41467-018-06354-3","article-title":"Genome-wide discovery of somatic regulatory variants in diffuse large B-cell\u00a0lymphoma","volume":"9","author":"Arthur","year":"2018","journal-title":"Nat Commun"},{"issue":"18","key":"2022121516281384200_bib18","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1182\/blood.2019002600","article-title":"The double-hit signature identifies double-hit diffuse large B-cell lymphoma with genetic events cryptic to FISH","volume":"134","author":"Hilton","year":"2019","journal-title":"Blood"},{"issue":"4","key":"2022121516281384200_bib19","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1073\/pnas.1205299110","article-title":"Genetic heterogeneity of diffuse large B-cell lymphoma","volume":"110","author":"Zhang","year":"2013","journal-title":"Proc Natl Sci U S A"},{"issue":"21","key":"2022121516281384200_bib20","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1182\/blood-2018-01-827881","article-title":"Germ line tissues for optimal detection of somatic variants in myelodysplastic syndromes","volume":"131","author":"Padron","year":"2018","journal-title":"Blood"},{"issue":"3","key":"2022121516281384200_bib21","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.pathol.2021.01.005","article-title":"Design, implementation and clinical utility of next generation sequencing in myeloid malignancies: acute myeloid leukaemia and myelodysplastic syndrome","volume":"53","author":"Hughes","year":"2021","journal-title":"Pathology"},{"issue":"10","key":"2022121516281384200_bib22","doi-asserted-by":"crossref","first-page":"e1005158","DOI":"10.1371\/journal.ppat.1005158","article-title":"Distinct viral and mutational spectrum of endemic Burkitt lymphoma","volume":"11","author":"Abate","year":"2015","journal-title":"PLoS Pathog"},{"issue":"15","key":"2022121516281384200_bib23","doi-asserted-by":"crossref","first-page":"3493","DOI":"10.1002\/cncr.32866","article-title":"Genome-defined African ancestry is associated with distinct mutations and worse\u00a0survival in patients with diffuse large B-cell lymphoma","volume":"126","author":"Lee","year":"2020","journal-title":"Cancer"},{"issue":"9","key":"2022121516281384200_bib24","doi-asserted-by":"crossref","first-page":"2290","DOI":"10.1158\/1078-0432.CCR-15-2123","article-title":"Genetic landscapes of relapsed and refractory diffuse large B-cell lymphomas","volume":"22","author":"Morin","year":"2016","journal-title":"Clin Cancer Res"},{"issue":"13","key":"2022121516281384200_bib25","doi-asserted-by":"crossref","first-page":"3132","DOI":"10.1080\/10428194.2019.1630620","article-title":"Misidentification of MLL3 and other mutations in cancer due to highly homologous genomic regions","volume":"60","author":"Bowler","year":"2019","journal-title":"Leuk Lymphoma"},{"issue":"1","key":"2022121516281384200_bib26","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/s41467-022-28115-z","article-title":"Misaligned sequencing reads from the GNAQ-pseudogene locus may yield GNAQ artefact variants","volume":"13","author":"Lim","year":"2022","journal-title":"Nat Commun"},{"key":"2022121516281384200_bib27","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.humpath.2019.08.019","article-title":"As the world turns, evolving lymphoma classifications-past, present and future","volume":"95","author":"Swerdlow","year":"2020","journal-title":"Hum Pathol"},{"issue":"20","key":"2022121516281384200_bib28","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1182\/blood-2016-01-643569","article-title":"The 2016 revision of the World Health Organization classification of lymphoid neoplasms","volume":"127","author":"Swerdlow","year":"2016","journal-title":"Blood"},{"issue":"2","key":"2022121516281384200_bib29","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/s41592-020-01013-2","article-title":"A\u00a0practical guide to cancer subclonal reconstruction from DNA sequencing","volume":"18","author":"Tarabichi","year":"2021","journal-title":"Nat Methods"},{"issue":"1","key":"2022121516281384200_bib30","doi-asserted-by":"crossref","first-page":"5040","DOI":"10.1038\/s41467-020-18688-y","article-title":"Framework for quality assessment of whole genome cancer sequences","volume":"11","author":"Whalley","year":"2020","journal-title":"Nat Commun"},{"key":"2022121516281384200_bib31","unstructured":"Brazma\n              A\n            , BallC, BumgarnerR, . Zenodo. MINSEQE: minimum information about a high-throughput nucleotide sequencing experiment - a proposal for standards in functional genomic data reporting. Accessed 1 May 2022. https:\/\/zenodo.org\/record\/5706412#.Y0kJHNdBzIU."},{"issue":"1","key":"2022121516281384200_bib32","doi-asserted-by":"crossref","first-page":"10086","DOI":"10.1038\/ncomms10086","article-title":"Patterns and functional implications of rare germline variants across 12 cancer types","volume":"6","author":"Lu","year":"2015","journal-title":"Nat Commun"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/140\/24\/2549\/2023911\/blood_bld-2022-016095-c-main.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/140\/24\/2549\/2023911\/blood_bld-2022-016095-c-main.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T16:30:06Z","timestamp":1671121806000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/140\/24\/2549\/486782\/Minimal-information-for-reporting-a-genomics"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,15]]},"references-count":32,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2022,12,15]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2022016095","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,15]]}}}