{"id":"https://openalex.org/W2766787629","doi":"https://doi.org/10.1186/s12859-018-2046-0","title":"Germline contamination and leakage in whole genome somatic single nucleotide variant detection","display_name":"Germline contamination and leakage in whole genome somatic single nucleotide variant detection","publication_year":2018,"publication_date":"2018-01-31","ids":{"openalex":"https://openalex.org/W2766787629","doi":"https://doi.org/10.1186/s12859-018-2046-0","mag":"2766787629","pmid":"https://pubmed.ncbi.nlm.nih.gov/29385983"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-018-2046-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-018-2046-0","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-018-2046-0","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-018-2046-0","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065685536","display_name":"Dorota H.S. Sendorek","orcid":"https://orcid.org/0000-0001-6199-246X"},"institutions":[{"id":"https://openalex.org/I112260969","display_name":"Ontario Institute for Cancer Research","ror":"https://ror.org/043q8yx54","country_code":"CA","type":"funder","lineage":["https://openalex.org/I112260969"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Dorota H. Sendorek","raw_affiliation_strings":["Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada"],"affiliations":[{"raw_affiliation_string":"Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada","institution_ids":["https://openalex.org/I112260969"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048567019","display_name":"Cristian Caloian","orcid":null},"institutions":[{"id":"https://openalex.org/I112260969","display_name":"Ontario Institute for Cancer Research","ror":"https://ror.org/043q8yx54","country_code":"CA","type":"funder","lineage":["https://openalex.org/I112260969"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Cristian Caloian","raw_affiliation_strings":["Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada"],"affiliations":[{"raw_affiliation_string":"Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada","institution_ids":["https://openalex.org/I112260969"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055055227","display_name":"Kyle Ellrott","orcid":"https://orcid.org/0000-0002-6573-5900"},"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/I185103710","display_name":"University of California, Santa Cruz","ror":"https://ror.org/03s65by71","country_code":"US","type":"education","lineage":["https://openalex.org/I185103710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kyle Ellrott","raw_affiliation_strings":["Computational Biology Program, Oregon Health & Science University, Portland, OR, USA","Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA"],"affiliations":[{"raw_affiliation_string":"Computational Biology Program, Oregon Health & Science University, Portland, OR, USA","institution_ids":["https://openalex.org/I165690674"]},{"raw_affiliation_string":"Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA","institution_ids":["https://openalex.org/I185103710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053723733","display_name":"J Christopher Bare","orcid":"https://orcid.org/0000-0003-1006-1491"},"institutions":[{"id":"https://openalex.org/I1323236076","display_name":"Sage Bionetworks","ror":"https://ror.org/049ncjx51","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1323236076"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Christopher Bare","raw_affiliation_strings":["Sage Bionetworks, Seattle, WA, USA"],"affiliations":[{"raw_affiliation_string":"Sage Bionetworks, Seattle, WA, USA","institution_ids":["https://openalex.org/I1323236076"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029886406","display_name":"Takafumi N. Yamaguchi","orcid":"https://orcid.org/0000-0003-1082-3871"},"institutions":[{"id":"https://openalex.org/I112260969","display_name":"Ontario Institute for Cancer Research","ror":"https://ror.org/043q8yx54","country_code":"CA","type":"funder","lineage":["https://openalex.org/I112260969"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Takafumi N. Yamaguchi","raw_affiliation_strings":["Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada"],"affiliations":[{"raw_affiliation_string":"Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada","institution_ids":["https://openalex.org/I112260969"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028570801","display_name":"Adam D. Ewing","orcid":"https://orcid.org/0000-0002-4544-994X"},"institutions":[{"id":"https://openalex.org/I185103710","display_name":"University of California, Santa Cruz","ror":"https://ror.org/03s65by71","country_code":"US","type":"education","lineage":["https://openalex.org/I185103710"]},{"id":"https://openalex.org/I4210092543","display_name":"Mater Research","ror":"https://ror.org/00nx6aa03","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210092543"]},{"id":"https://openalex.org/I165143802","display_name":"University of Queensland","ror":"https://ror.org/00rqy9422","country_code":"AU","type":"education","lineage":["https://openalex.org/I165143802"]}],"countries":["AU","US"],"is_corresponding":false,"raw_author_name":"Adam D. Ewing","raw_affiliation_strings":["Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA","Mater Research Institute, University of Queensland, Woolloongabba, Queensland, Australia"],"affiliations":[{"raw_affiliation_string":"Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA","institution_ids":["https://openalex.org/I185103710"]},{"raw_affiliation_string":"Mater Research Institute, University of Queensland, Woolloongabba, Queensland, Australia","institution_ids":["https://openalex.org/I4210092543","https://openalex.org/I165143802"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087801978","display_name":"Kathleen E. Houlahan","orcid":"https://orcid.org/0000-0002-2273-2099"},"institutions":[{"id":"https://openalex.org/I112260969","display_name":"Ontario Institute for Cancer Research","ror":"https://ror.org/043q8yx54","country_code":"CA","type":"funder","lineage":["https://openalex.org/I112260969"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Kathleen E. Houlahan","raw_affiliation_strings":["Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada"],"affiliations":[{"raw_affiliation_string":"Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada","institution_ids":["https://openalex.org/I112260969"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070538149","display_name":"Thea Norman","orcid":"https://orcid.org/0000-0003-2707-4387"},"institutions":[{"id":"https://openalex.org/I1323236076","display_name":"Sage Bionetworks","ror":"https://ror.org/049ncjx51","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1323236076"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thea C. Norman","raw_affiliation_strings":["Sage Bionetworks, Seattle, WA, USA"],"affiliations":[{"raw_affiliation_string":"Sage Bionetworks, Seattle, WA, USA","institution_ids":["https://openalex.org/I1323236076"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012601515","display_name":"Jake Lin","orcid":"https://orcid.org/0000-0001-9928-1663"},"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/I1323236076","display_name":"Sage Bionetworks","ror":"https://ror.org/049ncjx51","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1323236076"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adam A. Margolin","raw_affiliation_strings":["Computational Biology Program, Oregon Health & Science University, Portland, OR, USA","Department of Biomedical Engineering, Oregon Health & Science University, Portland, OR, USA","Sage Bionetworks, Seattle, WA, USA"],"affiliations":[{"raw_affiliation_string":"Computational Biology Program, Oregon Health & Science University, Portland, OR, USA","institution_ids":["https://openalex.org/I165690674"]},{"raw_affiliation_string":"Department of Biomedical Engineering, Oregon Health & Science University, Portland, OR, USA","institution_ids":["https://openalex.org/I165690674"]},{"raw_affiliation_string":"Sage Bionetworks, Seattle, WA, USA","institution_ids":["https://openalex.org/I1323236076"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029096739","display_name":"Joshua M. Stuart","orcid":"https://orcid.org/0000-0002-2171-565X"},"institutions":[{"id":"https://openalex.org/I185103710","display_name":"University of California, Santa Cruz","ror":"https://ror.org/03s65by71","country_code":"US","type":"education","lineage":["https://openalex.org/I185103710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joshua M. Stuart","raw_affiliation_strings":["Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA","institution_ids":["https://openalex.org/I185103710"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007657275","display_name":"Paul C. Boutros","orcid":"https://orcid.org/0000-0003-0553-7520"},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Paul C. Boutros","raw_affiliation_strings":["Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada. paul.boutros@oicr.on.ca","Department of Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada. paul.boutros@oicr.on.ca","Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada. paul.boutros@oicr.on.ca","Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada"],"affiliations":[{"raw_affiliation_string":"Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada. paul.boutros@oicr.on.ca","institution_ids":[]},{"raw_affiliation_string":"Department of Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada. paul.boutros@oicr.on.ca","institution_ids":[]},{"raw_affiliation_string":"Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada. paul.boutros@oicr.on.ca","institution_ids":[]},{"raw_affiliation_string":"Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I185261750"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5007657275"],"corresponding_institution_ids":["https://openalex.org/I185261750"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":0.4772,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.57443396,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"19","issue":"1","first_page":"28","last_page":"28"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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"}},"topics":[{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9991000294685364,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.9879999756813049,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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","display_name":"Germline","score":0.9115214347839355},{"id":"https://openalex.org/keywords/somatic-cell","display_name":"Somatic cell","score":0.8246222138404846},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6676533818244934},{"id":"https://openalex.org/keywords/germline-mutation","display_name":"Germline mutation","score":0.652465283870697},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5724016427993774},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5475385189056396},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5273756980895996},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.24679812788963318},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.22801360487937927}],"concepts":[{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.9115214347839355},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.8246222138404846},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6676533818244934},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.652465283870697},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5724016427993774},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5475385189056396},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5273756980895996},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24679812788963318},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.22801360487937927}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005854","descriptor_name":"Germ Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":7,"locations":[{"id":"doi:10.1186/s12859-018-2046-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-018-2046-0","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-018-2046-0","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:29385983","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29385983","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:utoronto.scholaris.ca:1807/83121","is_oa":true,"landing_page_url":"http://hdl.handle.net/1807/83121","pdf_url":"https://utoronto.scholaris.ca/bitstreams/80a7c822-1ed2-4d85-9ded-5a74f4307fc1/download","source":{"id":"https://openalex.org/S7407055458","display_name":"TSpace","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:ab0b15f9663d47eca47e4595ae0cd171","is_oa":true,"landing_page_url":"https://doaj.org/article/ab0b15f9663d47eca47e4595ae0cd171","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 19, Iss 1, Pp 1-9 (2018)","raw_type":"article"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt2p1973bb","is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/2p1973bb","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, vol 19, iss 1","raw_type":"article"},{"id":"pmh:oai:europepmc.org:4716212","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5793408","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:localhost:1807/83121","is_oa":false,"landing_page_url":"http://doi.org/10.1186/s12859-018-2046-0","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1186/s12859-018-2046-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-018-2046-0","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-018-2046-0","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5099999904632568,"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals"}],"awards":[{"id":"https://openalex.org/G1926317135","display_name":null,"funder_award_id":"the Canada Foundation for Innovation","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G2110048566","display_name":null,"funder_award_id":"U54-HG007990","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2314095305","display_name":null,"funder_award_id":"U24-CA143858","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3052155850","display_name":null,"funder_award_id":"Ontario Institute for Cancer Research","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G3484747843","display_name":null,"funder_award_id":"R01-CA180778","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3570834927","display_name":null,"funder_award_id":"Cancer C","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G3969565085","display_name":null,"funder_award_id":"Foundation","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G4389354971","display_name":null,"funder_award_id":"Research","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G4409028540","display_name":null,"funder_award_id":"New Investigator Award","funder_id":"https://openalex.org/F4320322597","funder_display_name":"Terry Fox Research Institute"},{"id":"https://openalex.org/G4515207065","display_name":null,"funder_award_id":"Grant","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G551170874","display_name":null,"funder_award_id":"Large-Scale Applied Project","funder_id":"https://openalex.org/F4320310787","funder_display_name":"Genome Canada"},{"id":"https://openalex.org/G5782839332","display_name":null,"funder_award_id":"New Investigator","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G6282788884","display_name":null,"funder_award_id":"Canadian Institutes of Health","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G727862659","display_name":null,"funder_award_id":"Canadian Institutes of Health Research (CIHR)","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G7429694812","display_name":null,"funder_award_id":"RS2014-01","funder_id":"https://openalex.org/F4320310747","funder_display_name":"Movember Foundation"}],"funders":[{"id":"https://openalex.org/F4320309327","display_name":"Google","ror":"https://ror.org/00njsd438"},{"id":"https://openalex.org/F4320310747","display_name":"Movember Foundation","ror":"https://ror.org/040eybd64"},{"id":"https://openalex.org/F4320310787","display_name":"Genome Canada","ror":"https://ror.org/029s29983"},{"id":"https://openalex.org/F4320313290","display_name":"Ontario Institute for Cancer Research","ror":"https://ror.org/043q8yx54"},{"id":"https://openalex.org/F4320314607","display_name":"Government of Ontario","ror":"https://ror.org/015pzp858"},{"id":"https://openalex.org/F4320319921","display_name":"Prostate Cancer Canada","ror":"https://ror.org/03p641z80"},{"id":"https://openalex.org/F4320322448","display_name":"Ontario Institute for Cancer Research","ror":"https://ror.org/043q8yx54"},{"id":"https://openalex.org/F4320322597","display_name":"Terry Fox Research Institute","ror":"https://ror.org/05vd00053"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320334506","display_name":"Canadian Institutes of Health Research","ror":"https://ror.org/01gavpb45"},{"id":"https://openalex.org/F4320334593","display_name":"Natural Sciences and Engineering Research Council of Canada","ror":"https://ror.org/01h531d29"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2766787629.pdf","grobid_xml":"https://content.openalex.org/works/W2766787629.grobid-xml"},"referenced_works_count":30,"referenced_works":["https://openalex.org/W1479918017","https://openalex.org/W1565207014","https://openalex.org/W1565378970","https://openalex.org/W1699155395","https://openalex.org/W1910443063","https://openalex.org/W1948797720","https://openalex.org/W1965856472","https://openalex.org/W1965857060","https://openalex.org/W1973234126","https://openalex.org/W1981382919","https://openalex.org/W2020541351","https://openalex.org/W2040228409","https://openalex.org/W2102729801","https://openalex.org/W2106332137","https://openalex.org/W2118258530","https://openalex.org/W2128408063","https://openalex.org/W2138601221","https://openalex.org/W2142403957","https://openalex.org/W2146290346","https://openalex.org/W2155943701","https://openalex.org/W2168610667","https://openalex.org/W2204505768","https://openalex.org/W2254169419","https://openalex.org/W2256016639","https://openalex.org/W2275411452","https://openalex.org/W2326879997","https://openalex.org/W2470439906","https://openalex.org/W2683414882","https://openalex.org/W2950257119","https://openalex.org/W4206713405"],"related_works":["https://openalex.org/W2606201227","https://openalex.org/W2000783020","https://openalex.org/W2086399984","https://openalex.org/W1491598325","https://openalex.org/W2310082378","https://openalex.org/W3026290368","https://openalex.org/W2093846964","https://openalex.org/W4238761868","https://openalex.org/W4296060409","https://openalex.org/W2041452721"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2}],"updated_date":"2026-03-08T08:50:53.379069","created_date":"2025-10-10T00:00:00"}
