{"id":"https://openalex.org/W2989341102","doi":"https://doi.org/10.1182/blood-2019-132224","title":"Framework to Identify and Prioritize Candidate Inherited Myeloid Malignancy Germline Variants Leveraging the BEAT AML Cohort","display_name":"Framework to Identify and Prioritize Candidate Inherited Myeloid Malignancy Germline Variants Leveraging the BEAT AML Cohort","publication_year":2019,"publication_date":"2019-11-13","ids":{"openalex":"https://openalex.org/W2989341102","doi":"https://doi.org/10.1182/blood-2019-132224","mag":"2989341102"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2019-132224","doi":"https://doi.org/10.1182/blood-2019-132224","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2019-132224","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061516412","display_name":"Daniel Bottomly","orcid":"https://orcid.org/0000-0001-7191-0990","observed_orcids":["https://orcid.org/0000-0001-7191-0990"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel Bottomly","raw_affiliation_strings":["Division of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046733014","display_name":"Nicola Long","orcid":"https://orcid.org/0000-0002-9010-8167","observed_orcids":["https://orcid.org/0000-0002-9010-8167"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicola Long","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100365428","display_name":"Fei Yang","orcid":"https://orcid.org/0000-0002-6965-8447","observed_orcids":["https://orcid.org/0000-0002-6965-8447"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fei Yang","raw_affiliation_strings":["Department of Pathology, Knight Diagnostic Laboratories, Knight Cancer Institute, and Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Knight Diagnostic Laboratories, Knight Cancer Institute, and Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024272034","display_name":"Tiffany L. Lee","orcid":"https://orcid.org/0000-0002-6875-8200","observed_orcids":["https://orcid.org/0000-0002-6875-8200"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tiffany Lee","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013231204","display_name":"Uma Borate","orcid":"https://orcid.org/0000-0002-4958-4962","observed_orcids":["https://orcid.org/0000-0002-4958-4962"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Uma Borate","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010834454","display_name":"Beth Wilmot","orcid":"https://orcid.org/0000-0003-3579-3592","observed_orcids":["https://orcid.org/0000-0003-3579-3592"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beth Wilmot","raw_affiliation_strings":["Division of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058055734","display_name":"Adam S. DuVall","orcid":"https://orcid.org/0000-0002-9163-8792","observed_orcids":["https://orcid.org/0000-0002-9163-8792"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adam S DuVall","raw_affiliation_strings":["Departments of Medicine and Pediatrics, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Pediatrics, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091323747","display_name":"Andrea Monteblanco","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrea Monteblanco","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000369991","display_name":"Karina Thiel-Klare","orcid":"https://orcid.org/0009-0004-6745-9681","observed_orcids":["https://orcid.org/0009-0004-6745-9681"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karina Thiel-Klare","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047001008","display_name":"Gabby Dewson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gabby Dewson","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055985698","display_name":"Richard D. Press","orcid":"https://orcid.org/0000-0002-2103-5144","observed_orcids":["https://orcid.org/0000-0002-2103-5144"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard D. Press","raw_affiliation_strings":["Department of Pathology, Knight Diagnostic Laboratories, Knight Cancer Institute, and Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Knight Diagnostic Laboratories, Knight Cancer Institute, and Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014545118","display_name":"Cristina E. Tognon","orcid":"https://orcid.org/0000-0002-4872-3078","observed_orcids":["https://orcid.org/0000-0002-4872-3078"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cristina E. Tognon","raw_affiliation_strings":["Howard Hughes Medical Institute, Portland, OR","Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Portland, OR","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5125591963","display_name":"Brian J. Druker","orcid":"https://orcid.org/0000-0001-8331-8206","observed_orcids":["https://orcid.org/0000-0001-8331-8206"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brian J. Druker","raw_affiliation_strings":["Howard Hughes Medical Institute, Portland, OR","Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Portland, OR","institution_ids":["https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5134831711","display_name":"Jeffrey W Tyner","orcid":"https://orcid.org/0000-0002-2133-0960","observed_orcids":["https://orcid.org/0000-0002-2133-0960"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey W. Tyner","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066373576","display_name":"Shannon K. McWeeney","orcid":"https://orcid.org/0000-0001-8333-6607","observed_orcids":["https://orcid.org/0000-0001-8333-6607"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shannon K. McWeeney","raw_affiliation_strings":["Division of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5076074507","display_name":"Anupriya Agarwal","orcid":"https://orcid.org/0000-0002-8319-6162","observed_orcids":["https://orcid.org/0000-0002-8319-6162"]},"institutions":[{"id":"https://openalex.org/I165690674","display_name":"Oregon Health & Science University","ror":"https://ror.org/009avj582","country_code":"US","type":"education","lineage":["https://openalex.org/I165690674"]},{"id":"https://openalex.org/I4390039369","display_name":"OHSU Knight Cancer Institute","ror":"https://ror.org/002shna07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anupriya Agarwal","raw_affiliation_strings":["Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland, OR","institution_ids":["https://openalex.org/I165690674","https://openalex.org/I4390039369"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"134","issue":"Supplement_1","first_page":"1407","last_page":"1407"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9502000212669373,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9502000212669373,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.03660000115633011,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.003599999938160181,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.9760000109672546},{"id":"https://openalex.org/keywords/acute-myeloid-leukemia","display_name":"acute myeloid leukemia","score":0.9710000157356262},{"id":"https://openalex.org/keywords/familial-leukemia","display_name":"familial leukemia","score":0.4909999966621399},{"id":"https://openalex.org/keywords/pathogenicity-prediction","display_name":"pathogenicity prediction","score":0.7710000276565552},{"id":"https://openalex.org/keywords/ddx41","display_name":"DDX41","score":0.8360000252723694},{"id":"https://openalex.org/keywords/chek2","display_name":"CHEK2","score":0.9879999756813049},{"id":"https://openalex.org/keywords/familial-aggregation","display_name":"familial aggregation","score":0.4050000011920929},{"id":"https://openalex.org/keywords/variant-curation","display_name":"variant curation","score":0.3240000009536743}],"concepts":[{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.6012840270996094},{"id":"https://openalex.org/C2778729363","wikidata":"https://www.wikidata.org/wiki/Q11688946","display_name":"Myeloid leukemia","level":2,"score":0.5813785195350647},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5416354537010193},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5186333060264587},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.516715943813324},{"id":"https://openalex.org/C2778461978","wikidata":"https://www.wikidata.org/wiki/Q29496","display_name":"Leukemia","level":2,"score":0.4465324282646179},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4302670359611511},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4275447130203247},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3822610080242157},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.380632609128952},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.32300084829330444},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3029720187187195},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2255530059337616},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12884914875030518}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1182/blood-2019-132224","doi":"https://doi.org/10.1182/blood-2019-132224","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2019-132224","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9922999739646912,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3198539472","https://openalex.org/W4401446728","https://openalex.org/W2985027839","https://openalex.org/W4213415592","https://openalex.org/W3008110097","https://openalex.org/W2989505941","https://openalex.org/W2950981481","https://openalex.org/W4412772977","https://openalex.org/W3028412953","https://openalex.org/W2913224547"],"abstract_inverted_index":{"Background:":[0],"Familial":[1],"predisposition":[2,28,64,311,338,379,457,582,607],"to":[3,29,91,384,480,551,630,891,944],"myeloid":[4,30,40],"malignancies":[5,204,278],"is":[6,302],"more":[7],"common":[8],"than":[9,175,183],"previously":[10,200,473],"appreciated.":[11],"15-20%":[12],"of":[13,39,58,62,72,95,107,114,134,144,173,194,216,245,273,276,290,336,354,404,411,446,498,505,529,567,588,593,596,601,683,694,707,722,734,752,765,779,796,808,831,843,851,885],"acute":[14,43],"leukemia":[15,25,116,206,310,337,378,456,581,606],"patients":[16,151,263,329,413,429,438,448,460,490,507,525,569,590,615],"have":[17,198,419,452,464,508,526,575],"at":[18,111,495],"least":[19],"1":[20],"additional":[21],"first-degree":[22],"relative":[23,423],"with":[24,152,168,202,256,264,305,326,381,414,424,430,439,449,461,472,491,580,609,616,619,877,907,922],"predisposition.":[26,207],"Germline":[27],"neoplasms":[31,41],"was":[32,855],"incorporated":[33],"in":[34,105,190,279,308,333,365,376,388,455,484,512,532,555,562,570,605,614,624,671,859,973],"the":[35,135,259,327,341,347,382,405,415,496,571,585,589],"WHO":[36],"2016":[37],"classification":[38],"and":[42,81,83,103,128,170,177,205,234,247,292,299,322,436,468,519,561,628,634,665,673,967,975],"leukemia.":[44],"The":[45,224,287,313,522,787],"clinical":[46,475,635,872,902,917],"guidelines":[47],"now":[48],"include":[49],"testing":[50],"for":[51,76,100,125,271,361,548],"inherited":[52],"susceptibility":[53],"as":[54,228,535],"a":[55,89,191,334,352,420,425,440],"critical":[56],"element":[57],"patient":[59,82,632],"diagnostics.":[60],"Identification":[61],"germline":[63,98,163,295,374,453,544,578,603],"syndrome":[65],"can":[66,121,622],"significantly":[67],"impact":[68,249],"treatment":[69,129],"decisions,":[70],"screening":[71],"potential":[73,96,383,479],"sibling":[74],"donors":[75],"allogeneic":[77],"stem":[78],"cell":[79,666,968],"transplantation,":[80],"family":[84,266,406],"surveillance.":[85],"Here":[86],"we":[87,139,350,370],"developed":[88],"framework":[90],"guide":[92,631],"routine":[93],"identification":[94,106,600],"pathogenic":[97,231,291,294,386,577],"mutations":[99,670,972],"further":[101],"characterization":[102],"aid":[104],"individuals":[108],"who":[109,418],"are":[110,546],"high":[112],"risk":[113],"developing":[115],"so":[117],"that":[118,197,477],"these":[119,447,488,506],"individual":[120],"be":[122,385,481],"closely":[123],"monitored":[124],"disease":[126,556,636],"management":[127],"interventions.":[130],"Methods:":[131],"As":[132],"part":[133],"Beat":[136,572,816],"AML":[137,150,368,499,568,573,817],"consortium,":[138],"performed":[140],"deep":[141],"whole-exome":[142],"sequencing":[143,560],"424":[145],"tumor":[146,344],"samples":[147,360],"from":[148,356,501],"378":[149,366],"matched":[153,362],"skin":[154,348],"biopsies":[155],"(Tyner,":[156],"et":[157],"al,":[158],"Nature":[159],"2018).":[160],"High":[161],"confidence":[162],"variants":[164,210,296,307,316,355,375,454,467,471,511,531,545,579,604],"called":[165],"by":[166,387,483,857],"VarScan2":[167],"Exac":[169],"gnoMD":[171],"frequency":[172,181,289],"less":[174],"1%":[176],"normal":[178],"variant":[179],"allele":[180],"greater":[182],"40%,":[184],"were":[185,211,226,240,269,317],"annotated":[186],"if":[187],"they":[188],"appeared":[189],"curated":[192],"list":[193],"244":[195],"genes":[196,380,533],"been":[199],"associated":[201],"hematological":[203,277,597],"Putative":[208],"novel":[209,373,466,543,602],"nominated":[212],"based":[213],"on":[214,258,611,679,690,703,718,730,748,761,792,804,821,827,871,901,916],"review":[215],"other":[217],"databases":[218],"(Exac,":[219],"gnoMD,":[220],"dbSNPOSMIC,":[221],"ClinVAR,":[222],"Varsome).":[223],"mutants":[225],"classified":[227],"pathogenic/":[229],"likely":[230,293],"using":[232,242,297],"Clinvar":[233,298],"ACMG/AMP":[235,300],"guidelines.":[236],"In":[237,584],"silico":[238,389,485,563,625],"curation":[239],"made":[241],"computational":[243],"predictions":[244],"pathogenicity":[246],"functional":[248,549,620],"(e.g.":[250],"Sift,":[251],"Polyphen,":[252],"Revel,":[253],"DANN,":[254],"CADD)":[255],"emphasis":[257,610],"Revel":[260],"scores.":[261],"All":[262,445],"available":[265,416],"history":[267,407],"data":[268,417],"evaluated":[270],"evidence":[272,592],"familial":[274,450,462,492,594,617],"clustering":[275,451,463,595,618],"1st,":[280],"2nd":[281,433],"or":[282,394,398,685,696,709,724,736,754,767,798,810,833,869,899,914],"3rd":[283,441],"degree":[284,422,434,442],"relatives.":[285],"Results:":[286],"overall":[288],"criteria":[301],"11.1%":[303],"(42/378)":[304],"38":[306],"29":[309],"genes.":[312,339,458,583],"most":[314],"frequent":[315],"DDX41":[318],"(6),":[319],"CHEK2":[320],"(5),":[321,514,518],"FANC":[323],"complex":[324],"(10)":[325],"remaining":[328,523],"having":[330],"single":[331],"observations":[332],"diversity":[335],"Recognizing":[340],"concerns":[342],"about":[343],"contamination":[345],"within":[346],"biopsy,":[349],"validated":[351],"subset":[353],"12":[357],"cultured":[358],"stromal":[359],"patients.":[363],"Overall,":[364,542],"primary":[367],"patients,":[369],"identified":[371,565],"55":[372],"44":[377],"prediction":[390,564,626],"[Revel":[391],">":[392,396,400],"0.5":[393],"DANN":[395],"0.9":[397],"CADD":[399],"19].":[401],"Interestingly,":[402],"evaluation":[403],"found":[408],"16":[409,459,489],"out":[410],"172":[412],"1st":[421],"hematologic":[426],"malignancy,":[427],"9":[428],"an":[431,680,691,704,719,731,749,762,793,805,828],"affected":[432,443],"relative,":[435],"5":[437],"relative.":[444],"6":[465,524],"35":[469],"reported":[470],"unpredicted":[474],"significance":[476],"show":[478],"deleterious":[482],"prediction.":[486],"For":[487],"clustering,":[493],"age":[494],"diagnosis":[497],"ranged":[500],"36-83":[502],"years.":[503],"Ten":[504],"overlapping":[509],"somatic":[510,530],"FLT3":[513],"NPM1":[515],"(4),":[516],"DNMT3A":[517],"CEBPA":[520],"(4).":[521],"isolated":[527],"cases":[528],"such":[534],"RAS,":[536],"IDH2,":[537],"U2AF1,":[538],"EZH2,":[539],"TET2,":[540],"etc.":[541],"candidates":[547],"validation":[550,621],"understand":[552],"their":[553],"contribution":[554],"pathogenicity.":[557],"Conclusions:":[558],"Exome":[559],"~11%":[566],"cohort":[574],"pathogenic/likely":[576],"cohort,":[586],"9.3%":[587],"had":[591],"malignancies.":[598],"Combining":[599],"genes,":[608],"those":[612],"seen":[613],"improve":[623],"efforts":[627],"help":[629],"monitoring":[633],"management.":[637],"Disclosures":[638],"Borate:":[639],"Novartis:":[640,866],"Consultancy;":[641,643,645,648,786,837],"Takeda:":[642,1045],"Pfizer:":[644,658,911],"Daiichi":[646],"Sankyo:":[647],"AbbVie:":[649],"Consultancy.":[650],"Druker:Bristol-Myers":[651],"Squibb:":[652,896],"Patents":[653,879,929,953,962],"&":[654,880,927,930,946,954,963],"Royalties,":[655],"Research":[656,659,789,893,909,924,981,984,987,990,993,996,999,1002,1005,1008,1011,1014,1017,1020,1023,1027,1030,1033,1036,1040,1043,1046,1049,1052,1055,1058],"Funding;":[657,660,894,910,925,982,985,988,991,994,997,1000,1003,1006,1009,1012,1015,1018,1021,1024,1028,1031,1034,1037,1041,1044,1047,1050,1053,1056],"Aileron":[661],"Therapeutics:":[662],"#2573,":[663,965],"Constructs":[664,966],"lines":[667,969],"harboring":[668,970],"various":[669,971],"TNK2":[672,974],"PTPN11,":[674,976],"licensing":[675,977],"fees":[676,978],",":[677],"Membership":[678,689,702,717,729,747,760,791,803,826],"entity's":[681,692,705,720,732,750,763,794,806,829],"Board":[682,693,706,721,733,751,764,795,807,830],"Directors":[684,695,708,723,735,753,766,797,809,832],"advisory":[686,697,710,725,737,755,768,799,811,834],"committees;":[687,698,711,726,756,769,800,835],"ALLCRON:":[688],"Amgen:":[699],"Equity":[700,715,745,774],"Ownership,":[701,716,746,775],"Aptose":[712],"Biosciences:":[713,802],"Consultancy,":[714,744,771],"Beta":[727],"Cat:":[728],"committees,":[738,812],"Other:":[739,776,813,819,840,848,863,867,897,912],"Stock":[740,814],"options;":[741,815],"Blueprint":[742],"Medicines:":[743],"Burroughs":[757],"Wellcome":[758],"Fund:":[759],"Cepheid:":[770],"Honoraria;":[772],"GRAIL:":[773],"former":[777,841,864],"member":[778,842],"Scientific":[780,844,849],"Advisory":[781,845],"Board;":[782,846],"Patient":[783],"True":[784],"Talk:":[785],"RUNX1":[788],"Program:":[790],"Vivid":[801],"LLC:":[818],"Service":[820],"joint":[822],"steering":[823],"committee;":[824],"CureOne:":[825],"Celgene:":[836],"Gilead":[838],"Sciences:":[839],"ICON:":[847],"Founder":[850],"Molecular":[852],"MD,":[853],"which":[854],"acquired":[856],"ICON":[858],"Feb.":[860],"2019;":[861],"Monojul:":[862],"consultant;":[865],"PI":[868,898,913],"co-investigator":[870,900,915],"trial(s)":[873,903,918],"funded":[874,904,919],"via":[875,905,920],"contract":[876,906,921],"OHSU.,":[878,908,923],"Royalties:":[881,931,955,964],"Patent":[882],"6958335,":[883],"Treatment":[884],"Gastrointestinal":[886],"Stromal":[887],"Tumors,":[888],"exclusively":[889],"licensed":[890],"Novartis,":[892],"Bristol-Myers":[895],"Merck":[926,945],"Co:":[928],"Dana-Farber":[932,948],"Cancer":[933,949],"Institute":[934,950],"license":[935,943],"#2063,":[936],"Monoclonal":[937],"antiphosphotyrosine":[938],"antibody":[939,957],"4G10,":[940],"exclusive":[941],"commercial":[942],"Co;":[947],"(antibody":[951],"royalty):":[952],"#2524,":[956],"royalty;":[958],"OHSU":[959],"(licensing":[960],"fees):":[961],".":[979],"Tyner:Takeda:":[980],"Incyte:":[983,1051],"Gilead:":[986,1035],"Janssen:":[989,1016],"Syros:":[992,1042],"Array:":[995,1007],"Genentech:":[998,1032],"Constellation:":[1001,1057],"Agios:":[1004,1013],"AstraZeneca:":[1010,1054],"Petra:":[1019,1022],"Seattle":[1025,1038],"Genetics:":[1026,1039],"Aptose:":[1029,1048],"Funding.":[1059]},"counts_by_year":[],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2019-11-22T00:00:00"}
