{"id":"https://openalex.org/W2888000548","doi":"https://doi.org/10.1145/3233547.3233666","title":"Tutorial","display_name":"Tutorial","publication_year":2018,"publication_date":"2018-08-15","ids":{"openalex":"https://openalex.org/W2888000548","doi":"https://doi.org/10.1145/3233547.3233666","mag":"2888000548"},"language":"en","primary_location":{"id":"doi:10.1145/3233547.3233666","is_oa":false,"landing_page_url":"https://doi.org/10.1145/3233547.3233666","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the 2018 ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics","raw_type":"proceedings-article"},"type":"article","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/A5069892731","display_name":"Alex Kotlar","orcid":"https://orcid.org/0000-0002-1578-6849"},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alex V. Kotlar","raw_affiliation_strings":["Emory University, Atlanta, GA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emory University, Atlanta, GA, USA","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103132708","display_name":"Thomas S. Wingo","orcid":"https://orcid.org/0000-0002-7679-6282"},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas S. Wingo","raw_affiliation_strings":["Emory University, Atlanta, GA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Emory University, Atlanta, GA, USA","institution_ids":["https://openalex.org/I150468666"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1792,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.63315787,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":null,"issue":null,"first_page":"558","last_page":"558"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9990000128746033,"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":0.9990000128746033,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9973000288009644,"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"}},{"id":"https://openalex.org/T11482","display_name":"RNA modifications and cancer","score":0.9936000108718872,"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/computer-science","display_name":"Computer science","score":0.7804009318351746},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5931541323661804},{"id":"https://openalex.org/keywords/terabyte","display_name":"Terabyte","score":0.5338389277458191},{"id":"https://openalex.org/keywords/python","display_name":"Python (programming language)","score":0.4852583110332489},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.47744566202163696},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.4103028178215027},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.38759276270866394},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.11871644854545593}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7804009318351746},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5931541323661804},{"id":"https://openalex.org/C199683683","wikidata":"https://www.wikidata.org/wiki/Q8799","display_name":"Terabyte","level":2,"score":0.5338389277458191},{"id":"https://openalex.org/C519991488","wikidata":"https://www.wikidata.org/wiki/Q28865","display_name":"Python (programming language)","level":2,"score":0.4852583110332489},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.47744566202163696},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.4103028178215027},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.38759276270866394},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.11871644854545593},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1145/3233547.3233666","is_oa":false,"landing_page_url":"https://doi.org/10.1145/3233547.3233666","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the 2018 ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Quality Education","score":0.800000011920929,"id":"https://metadata.un.org/sdg/4"}],"awards":[{"id":"https://openalex.org/G1161021637","display_name":null,"funder_award_id":"R01MH100917","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G7647102780","display_name":null,"funder_award_id":"AG056533","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7981579865","display_name":null,"funder_award_id":"AG025688","funder_id":"https://openalex.org/F4320337376","funder_display_name":"NIH Clinical Center"}],"funders":[{"id":"https://openalex.org/F4320306133","display_name":"Burroughs Wellcome Fund","ror":"https://ror.org/01d35cw23"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337376","display_name":"NIH Clinical Center","ror":"https://ror.org/04vfsmv21"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":5,"referenced_works":["https://openalex.org/W2087936498","https://openalex.org/W2160995259","https://openalex.org/W2624181124","https://openalex.org/W2893506494","https://openalex.org/W3100609182"],"related_works":["https://openalex.org/W2066858118","https://openalex.org/W3011699130","https://openalex.org/W2134017072","https://openalex.org/W1976914335","https://openalex.org/W2915208987","https://openalex.org/W2152256925","https://openalex.org/W1940452713","https://openalex.org/W2005567565","https://openalex.org/W2058150833","https://openalex.org/W2806040249"],"abstract_inverted_index":{"Accurately":[0],"identifying":[1],"disease-associated":[2],"alleles":[3,80],"from":[4],"large":[5],"sequencing":[6,32],"experiments":[7,57],"remains":[8],"challenging.":[9],"During":[10],"this":[11],"tutorial,":[12],"participants":[13],"will":[14,69,84],"learn":[15],"how":[16,72],"to":[17,30,48,73],"use":[18],"a":[19,97],"new":[20,114],"variant":[21,43],"annotation":[22,44],"and":[23,45,78,92],"filtering":[24,46,66],"web":[25],"app":[26],"called":[27],"Bystro":[28,34],"(https://bystro.io/)":[29],"analyze":[31],"experiments.":[33],"is":[35],"the":[36,53],"first":[37],"online,":[38],"cloud-based":[39],"application":[40],"that":[41],"makes":[42],"accessible":[47],"all":[49],"researchers":[50],"for":[51],"even":[52],"largest,":[54],"terabyte-sized":[55],"whole-genome":[56],"containing":[58],"thousands":[59],"of":[60,81],"samples.":[61],"Using":[62],"its":[63],"general-purpose,":[64],"natural-language":[65],"engine,":[67],"attendees":[68],"be":[70,86],"shown":[71],"perform":[74],"quality":[75],"control":[76],"measures":[77],"identify":[79],"interest.":[82],"They":[83],"then":[85],"guided":[87],"in":[88,95,105,118],"exporting":[89],"those":[90],"variants,":[91],"using":[93],"them":[94],"both":[96],"regression":[98],"context":[99,111],"by":[100,112],"performing":[101],"rare-variant":[102],"association":[103],"tests":[104],"R,":[106],"as":[107,109],"well":[108],"classification":[110],"training":[113],"machine":[115],"learning":[116],"models":[117],"Python's":[119],"scikit-learn":[120],"library.":[121]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2020,"cited_by_count":1}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2018-08-31T00:00:00"}
