{"id":"https://openalex.org/W2228484003","doi":"https://doi.org/10.1186/s12859-015-0865-9","title":"Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts","display_name":"Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts","publication_year":2016,"publication_date":"2016-01-08","ids":{"openalex":"https://openalex.org/W2228484003","doi":"https://doi.org/10.1186/s12859-015-0865-9","mag":"2228484003","pmid":"https://pubmed.ncbi.nlm.nih.gov/26746786"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-015-0865-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-015-0865-9","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-015-0865-9","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/s12859-015-0865-9","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034893893","display_name":"J\u00f6rg Hakenberg","orcid":"https://orcid.org/0000-0001-8781-7766"},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"J\u00f6rg Hakenberg","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. joerg.hakenberg@gmail.com","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. joerg.hakenberg@gmail.com","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002425072","display_name":"Wei\u2010Yi Cheng","orcid":"https://orcid.org/0000-0002-7588-298X"},"institutions":[{"id":"https://openalex.org/I178645029","display_name":"Illumina (United States)","ror":"https://ror.org/05k34t975","country_code":"US","type":"company","lineage":["https://openalex.org/I178645029"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wei-Yi Cheng","raw_affiliation_strings":["Current affiliation: Illumina, Inc., 451 El Camino Real, Suite 210, Santa Clara, 95050, USA. ninpy.weiyi@gmail.com","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. ninpy.weiyi@gmail.com","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Current affiliation: Illumina, Inc., 451 El Camino Real, Suite 210, Santa Clara, 95050, USA. ninpy.weiyi@gmail.com","institution_ids":["https://openalex.org/I178645029"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. ninpy.weiyi@gmail.com","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025893671","display_name":"Philippe Thomas","orcid":"https://orcid.org/0000-0001-9136-9660"},"institutions":[{"id":"https://openalex.org/I55921689","display_name":"La Roche College","ror":"https://ror.org/04bthcb08","country_code":"US","type":"education","lineage":["https://openalex.org/I55921689"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Philippe Thomas","raw_affiliation_strings":["Current affiliation: Roche Parma Research and Early Development, Informatics, Roche Innovation Center New York, 430 East 29th St, New York, 10016, USA. thomas@informatik.hu-berlin.de","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. thomas@informatik.hu-berlin.de","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Current affiliation: Roche Parma Research and Early Development, Informatics, Roche Innovation Center New York, 430 East 29th St, New York, 10016, USA. thomas@informatik.hu-berlin.de","institution_ids":["https://openalex.org/I55921689"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. thomas@informatik.hu-berlin.de","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102965585","display_name":"Ying\u2010Chih Wang","orcid":"https://orcid.org/0000-0003-3984-502X"},"institutions":[{"id":"https://openalex.org/I33256026","display_name":"German Research Centre for Artificial Intelligence","ror":"https://ror.org/01ayc5b57","country_code":"DE","type":"funder","lineage":["https://openalex.org/I33256026"]},{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ying-Chih Wang","raw_affiliation_strings":["Current affiliation: German Research Centre for Artificial Intelligence (DFKI), Alt Moabit 91c, Berlin, 10559, Germany. ying-chih.wang@mssm.edu","Department of Computer Science, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, Berlin, 10099, Germany. ying-chih.wang@mssm.edu","Department of Computer Science, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, Berlin, 10099, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Current affiliation: German Research Centre for Artificial Intelligence (DFKI), Alt Moabit 91c, Berlin, 10559, Germany. ying-chih.wang@mssm.edu","institution_ids":["https://openalex.org/I33256026"]},{"raw_affiliation_string":"Department of Computer Science, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, Berlin, 10099, Germany. ying-chih.wang@mssm.edu","institution_ids":["https://openalex.org/I39343248"]},{"raw_affiliation_string":"Department of Computer Science, Humboldt-Universit\u00e4t zu Berlin, Unter den Linden 6, Berlin, 10099, Germany","institution_ids":["https://openalex.org/I39343248"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029416625","display_name":"Andrew Uzilov","orcid":"https://orcid.org/0000-0002-5411-9280"},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew V. Uzilov","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. andrew.uzilov@mssm.edu","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. andrew.uzilov@mssm.edu","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100418998","display_name":"Rong Chen","orcid":"https://orcid.org/0000-0001-6322-0340"},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rong Chen","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. rong.chen@mssm.edu","Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA. rong.chen@mssm.edu","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Ave, Box 1498, New York, 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5034893893"],"corresponding_institution_ids":["https://openalex.org/I98704320"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":3.5552,"has_fulltext":true,"cited_by_count":20,"citation_normalized_percentile":{"value":0.92287335,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"17","issue":"1","first_page":"24","last_page":"24"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9308000206947327,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9308000206947327,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.06400000303983688,"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":0.0005000000237487257,"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/disease","display_name":"Disease","score":0.6469939947128296},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6106865406036377},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5658013820648193},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5169615149497986},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.4934646189212799},{"id":"https://openalex.org/keywords/genotyping","display_name":"Genotyping","score":0.4834528863430023},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.46567341685295105},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.4238634407520294},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.419376015663147},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.40611401200294495},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.33762186765670776},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.22418594360351562},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.16719314455986023},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.13851624727249146}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6469939947128296},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6106865406036377},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5658013820648193},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5169615149497986},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.4934646189212799},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.4834528863430023},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.46567341685295105},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.4238634407520294},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.419376015663147},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.40611401200294495},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.33762186765670776},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.22418594360351562},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16719314455986023},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.13851624727249146},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","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":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","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":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","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":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1186/s12859-015-0865-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-015-0865-9","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-015-0865-9","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:26746786","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26746786","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:europepmc.org:3682051","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4706706","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/s12859-015-0865-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-015-0865-9","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-015-0865-9","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":[],"awards":[{"id":"https://openalex.org/G6689231961","display_name":null,"funder_award_id":"MC_PC_15018","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320309658","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2228484003.pdf","grobid_xml":"https://content.openalex.org/works/W2228484003.grobid-xml"},"referenced_works_count":54,"referenced_works":["https://openalex.org/W1556386043","https://openalex.org/W1563940013","https://openalex.org/W1899479364","https://openalex.org/W1969099570","https://openalex.org/W1980740976","https://openalex.org/W1984068087","https://openalex.org/W1987754412","https://openalex.org/W1996641286","https://openalex.org/W2018189081","https://openalex.org/W2021841129","https://openalex.org/W2024405748","https://openalex.org/W2037458235","https://openalex.org/W2044832480","https://openalex.org/W2049279965","https://openalex.org/W2052250375","https://openalex.org/W2057830428","https://openalex.org/W2081067541","https://openalex.org/W2081823535","https://openalex.org/W2082435050","https://openalex.org/W2086072858","https://openalex.org/W2104570606","https://openalex.org/W2106578986","https://openalex.org/W2107720458","https://openalex.org/W2111326065","https://openalex.org/W2113534011","https://openalex.org/W2116759194","https://openalex.org/W2118151336","https://openalex.org/W2122732537","https://openalex.org/W2129016996","https://openalex.org/W2131520733","https://openalex.org/W2136101247","https://openalex.org/W2145809383","https://openalex.org/W2148594696","https://openalex.org/W2149870803","https://openalex.org/W2150288223","https://openalex.org/W2154542040","https://openalex.org/W2154866190","https://openalex.org/W2159965404","https://openalex.org/W2160344363","https://openalex.org/W2160995259","https://openalex.org/W2162151166","https://openalex.org/W2164461702","https://openalex.org/W2165840723","https://openalex.org/W2169567789","https://openalex.org/W2171777347","https://openalex.org/W2259938310","https://openalex.org/W2428913065","https://openalex.org/W2519244818","https://openalex.org/W2628074563","https://openalex.org/W2739999456","https://openalex.org/W2885727518","https://openalex.org/W4210767115","https://openalex.org/W4242191001","https://openalex.org/W7043861717"],"related_works":["https://openalex.org/W2378369506","https://openalex.org/W2353370357","https://openalex.org/W2806032235","https://openalex.org/W2755824586","https://openalex.org/W4280553679","https://openalex.org/W1993755972","https://openalex.org/W2123445896","https://openalex.org/W4210708634","https://openalex.org/W2336964974","https://openalex.org/W2279684808"],"abstract_inverted_index":{"BACKGROUND:":[0],"Data":[1],"from":[2],"a":[3,19,38,63,72],"plethora":[4],"of":[5,21,74],"high-throughput":[6],"sequencing":[7,76],"studies":[8],"is":[9,169],"readily":[10],"available":[11,170],"to":[12,98,127,142,162],"researchers,":[13],"providing":[14],"genetic":[15,51,130],"variants":[16,69,114],"detected":[17],"in":[18,45,71,116,167],"variety":[20],"healthy":[22],"and":[23,35,55,89,105,138,155,165],"disease":[24,56,90,103,136],"populations.":[25],"While":[26],"each":[27],"individual":[28],"cohort":[29],"helps":[30],"gain":[31],"insights":[32],"into":[33],"polymorphic":[34],"disease-associated":[36],"variants,":[37,49,54],"joint":[39],"perspective":[40],"can":[41,148],"be":[42,150],"more":[43,117],"powerful":[44],"identifying":[46],"polymorphisms,":[47],"rare":[48],"disease-associations,":[50],"burden,":[52],"somatic":[53],"mechanisms.":[57],"DESCRIPTION:":[58],"We":[59],"have":[60],"set":[61],"up":[62],"Reference":[64],"Variant":[65],"Store":[66],"(RVS)":[67],"containing":[68],"observed":[70,115],"number":[73],"large-scale":[75],"efforts,":[77],"such":[78],"as":[79],"1000":[80],"Genomes,":[81],"ExAC,":[82],"Scripps":[83],"Wellderly,":[84],"UK10K;":[85],"various":[86],"genotyping":[87],"studies;":[88],"association":[91],"databases.":[92],"RVS":[93,108,123,147,168],"holds":[94],"extensive":[95],"annotations":[96,166],"pertaining":[97],"affected":[99],"genes,":[100],"functional":[101],"impacts,":[102],"associations,":[104,134],"population":[106],"frequencies.":[107],"currently":[109],"stores":[110],"400":[111],"million":[112],"distinct":[113],"than":[118],"80,000":[119],"human":[120],"samples.":[121],"CONCLUSIONS:":[122],"facilitates":[124],"cross-study":[125],"analysis":[126],"discover":[128],"novel":[129],"risk":[131],"factors,":[132],"gene-disease":[133],"potential":[135],"mechanisms,":[137],"actionable":[139],"variants.":[140],"Due":[141],"its":[143],"large":[144],"reference":[145],"populations,":[146],"also":[149],"employed":[151],"for":[152],"variant":[153],"filtration":[154],"gene":[156],"prioritization.":[157],"AVAILABILITY:":[158],"A":[159],"web":[160],"interface":[161],"public":[163],"datasets":[164],"at":[171],"https://rvs.u.hpc.mssm.edu/.":[172]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":3}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}