{"id":"https://openalex.org/W2990963824","doi":"https://doi.org/10.1186/s13059-019-1847-4","title":"RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants","display_name":"RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants","publication_year":2019,"publication_date":"2019-11-28","ids":{"openalex":"https://openalex.org/W2990963824","doi":"https://doi.org/10.1186/s13059-019-1847-4","mag":"2990963824","pmid":"https://pubmed.ncbi.nlm.nih.gov/31779641","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6883696"},"language":"en","primary_location":{"id":"doi:10.1186/s13059-019-1847-4","doi":"https://doi.org/10.1186/s13059-019-1847-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13059-019-1847-4","pdf_url":"https://genomebiology.biomedcentral.com/counter/pdf/10.1186/s13059-019-1847-4","source":{"id":"https://openalex.org/S81160022","display_name":"Genome biology","issn_l":"1465-6906","issn":["1465-6906","1465-6914","1474-7596","1474-760X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"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":"Genome Biology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://genomebiology.biomedcentral.com/counter/pdf/10.1186/s13059-019-1847-4","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5012510396","display_name":"Hai Lin","orcid":"https://orcid.org/0000-0003-3376-1247","observed_orcids":["https://orcid.org/0000-0003-3376-1247"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hai Lin","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082179936","display_name":"Katherine A. Gallaway","orcid":"https://orcid.org/0000-0001-9568-6583","observed_orcids":["https://orcid.org/0000-0001-9568-6583"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katherine A. Hargreaves","raw_affiliation_strings":["Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078383638","display_name":"Rudong Li","orcid":"https://orcid.org/0000-0002-2389-1737","observed_orcids":["https://orcid.org/0000-0002-2389-1737","https://orcid.org/0000-0002-8996-920X"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rudong Li","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085074001","display_name":"Jill L. Reiter","orcid":"https://orcid.org/0000-0001-5460-2355","observed_orcids":["https://orcid.org/0000-0001-5460-2355"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jill L. Reiter","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100372131","display_name":"Yue Wang","orcid":"https://orcid.org/0000-0003-4671-8547","observed_orcids":["https://orcid.org/0000-0003-4671-8547"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yue Wang","raw_affiliation_strings":["Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039958070","display_name":"Matthew E. Mort","orcid":"https://orcid.org/0000-0002-3986-0935","observed_orcids":["https://orcid.org/0000-0002-3986-0935"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Matthew Mort","raw_affiliation_strings":["Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042443600","display_name":"D.N. Cooper","orcid":"https://orcid.org/0000-0002-8943-8484","observed_orcids":["https://orcid.org/0000-0002-8943-8484"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David N. Cooper","raw_affiliation_strings":["Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032724151","display_name":"Yaoqi Zhou","orcid":"https://orcid.org/0000-0002-9958-5699","observed_orcids":["https://orcid.org/0000-0002-9958-5699"]},"institutions":[{"id":"https://openalex.org/I11701301","display_name":"Griffith University","ror":"https://ror.org/02sc3r913","country_code":"AU","type":"education","lineage":["https://openalex.org/I11701301"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Yaoqi Zhou","raw_affiliation_strings":["Institute for Glycomics and School of Informatics and Communication Technology, Griffith University, Parklands Dr., Southport, QLD, 4215, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Glycomics and School of Informatics and Communication Technology, Griffith University, Parklands Dr., Southport, QLD, 4215, Australia","institution_ids":["https://openalex.org/I11701301"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012408594","display_name":"Chi Zhang","orcid":"https://orcid.org/0000-0001-9553-0925","observed_orcids":["https://orcid.org/0000-0001-9553-0925"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chi Zhang","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067667442","display_name":"Michael T. Eadon","orcid":"https://orcid.org/0000-0003-3066-2876","observed_orcids":["https://orcid.org/0000-0003-3066-2876"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael T. Eadon","raw_affiliation_strings":["Division of Nephrology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108948655","display_name":"M. Eileen Dolan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Eileen Dolan","raw_affiliation_strings":["Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL, 60637, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL, 60637, USA","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001258676","display_name":"Joseph Ipe","orcid":"https://orcid.org/0000-0002-8362-4403","observed_orcids":["https://orcid.org/0000-0002-8362-4403"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joseph Ipe","raw_affiliation_strings":["Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014194365","display_name":"Todd C. Skaar","orcid":"https://orcid.org/0000-0002-3849-374X","observed_orcids":["https://orcid.org/0000-0002-3849-374X"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Todd C. Skaar","raw_affiliation_strings":["Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA. tskaar@iu.edu","Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA. tskaar@iu.edu","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, 950 W Walnut St, Suite 419, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100337355","display_name":"Yunlong Liu","orcid":"https://orcid.org/0000-0002-2699-626X","observed_orcids":["https://orcid.org/0000-0002-2699-626X"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I55769427","display_name":"Indiana University \u2013 Purdue University Indianapolis","ror":"https://ror.org/05gxnyn08","country_code":"US","type":"education","lineage":["https://openalex.org/I55769427","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Yunlong Liu","raw_affiliation_strings":["Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. yunliu@iu.edu","Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA. yunliu@iu.edu","Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA"],"raw_orcid":"https://orcid.org/0000-0002-2699-626X","affiliations":[{"raw_affiliation_string":"Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. yunliu@iu.edu","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA. yunliu@iu.edu","institution_ids":["https://openalex.org/I4394709130","https://openalex.org/I55769427"]},{"raw_affiliation_string":"Department of Medical & Molecular Genetics, Indiana University School of Medicine, 410 West 10th Street, Suite 5000, Indianapolis, IN, 46202, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5014194365","https://openalex.org/A5100337355"],"corresponding_institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130","https://openalex.org/I55769427"],"apc_list":{"value":3490,"currency":"USD","value_usd":3490},"apc_paid":{"value":3490,"currency":"USD","value_usd":3490},"fwci":5.6528,"has_fulltext":true,"cited_by_count":80,"citation_normalized_percentile":{"value":0.97170291,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"20","issue":"1","first_page":"254","last_page":"254"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9721999764442444,"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":0.9721999764442444,"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/T10604","display_name":"RNA Research and Splicing","score":0.025699999183416367,"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/T10261","display_name":"Genetic Associations and Epidemiology","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/pathogenicity-prediction","display_name":"pathogenicity prediction","score":0.8240000009536743},{"id":"https://openalex.org/keywords/rna-splicing","display_name":"RNA splicing","score":0.8560000061988831},{"id":"https://openalex.org/keywords/protein-structure","display_name":"protein structure","score":0.6340000033378601},{"id":"https://openalex.org/keywords/evolutionary-conservation","display_name":"evolutionary conservation","score":0.9890000224113464},{"id":"https://openalex.org/keywords/random-forest","display_name":"random forest","score":0.8700000047683716},{"id":"https://openalex.org/keywords/variant-prioritization","display_name":"variant prioritization","score":0.800000011920929},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.8050000071525574}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8637436032295227},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.742994487285614},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.6931357383728027},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.648901641368866},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6194858551025391},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5406640768051147},{"id":"https://openalex.org/C64015301","wikidata":"https://www.wikidata.org/wiki/Q5533480","display_name":"Genome Biology","level":5,"score":0.4321073889732361},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.36460697650909424},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.3218020796775818},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2691015601158142},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.22666192054748535},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.20936468243598938}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005821","descriptor_name":"Genetic Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","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}],"locations_count":9,"locations":[{"id":"doi:10.1186/s13059-019-1847-4","doi":"https://doi.org/10.1186/s13059-019-1847-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13059-019-1847-4","pdf_url":"https://genomebiology.biomedcentral.com/counter/pdf/10.1186/s13059-019-1847-4","source":{"id":"https://openalex.org/S81160022","display_name":"Genome biology","issn_l":"1465-6906","issn":["1465-6906","1465-6914","1474-7596","1474-760X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"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":"Genome Biology","raw_type":"journal-article"},{"id":"doi:10.1101/515171","doi":"https://doi.org/10.1101/515171","is_oa":true,"landing_page_url":"https://doi.org/10.1101/515171","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2019/01/09/515171.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:6883696","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6883696","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genome Biol","raw_type":"Text"},{"id":"pmid:31779641","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31779641","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,"listed_in":[],"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":"Genome biology","raw_type":"Journal Article"},{"id":"pmh:oai:https://orca.cardiff.ac.uk:127348","doi":null,"is_oa":true,"landing_page_url":"https://orca.cardiff.ac.uk/id/eprint/127348/1/COOPER%2C%20David%20-%20RegSNPs-intron%20a%20computational%20framework%20for%20predicting%20pathogenic%20impact.pdf","pdf_url":"https://orca.cardiff.ac.uk/id/eprint/127348/1/COOPER%2C%20David%20-%20RegSNPs-intron%20a%20computational%20framework%20for%20predicting%20pathogenic%20impact.pdf","source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:47cc29eb6f3b4c69825e0bce0b359331","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/47cc29eb6f3b4c69825e0bce0b359331","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genome Biology, Vol 20, Iss 1, Pp 1-16 (2019)","raw_type":"article"},{"id":"pmh:oai:research-repository.griffith.edu.au:10072/392846","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10072/392846","pdf_url":null,"source":{"id":"https://openalex.org/S7407064376","display_name":"Griffith Research Online","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"Journal article"},{"id":"pmh:oai:scholarworks.indianapolis.iu.edu:1805/22364","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/1805/22364","pdf_url":null,"source":{"id":"https://openalex.org/S4306400987","display_name":"IUScholarWorks (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"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":"PMC","raw_type":"Article"},{"id":"pmh:oai:scholarworks.iupui.edu:1805/22364","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1805/22364","pdf_url":null,"source":{"id":"https://openalex.org/S4306402593","display_name":"Purdue University Indianapolis (Indiana University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I592451","host_organization_name":"Indiana University","host_organization_lineage":["https://openalex.org/I592451"],"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":"PMC","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1186/s13059-019-1847-4","doi":"https://doi.org/10.1186/s13059-019-1847-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13059-019-1847-4","pdf_url":"https://genomebiology.biomedcentral.com/counter/pdf/10.1186/s13059-019-1847-4","source":{"id":"https://openalex.org/S81160022","display_name":"Genome biology","issn_l":"1465-6906","issn":["1465-6906","1465-6914","1474-7596","1474-760X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"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":"Genome Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3788604475","display_name":"Regulation of mRNA splicing by intronic genetic variants","funder_award_id":"R01CA213466","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G7506608006","display_name":"Acute inhibition of renal gene expression to prevent nephrotoxicity.","funder_award_id":"K08DK107864","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2990963824.pdf","grobid_xml":"https://content.openalex.org/works/W2990963824.grobid-xml"},"referenced_works_count":65,"referenced_works":["https://openalex.org/W1718065612","https://openalex.org/W1865845132","https://openalex.org/W1979857331","https://openalex.org/W1987754412","https://openalex.org/W1995224771","https://openalex.org/W2005191830","https://openalex.org/W2011582941","https://openalex.org/W2012284471","https://openalex.org/W2018189081","https://openalex.org/W2024035237","https://openalex.org/W2036897871","https://openalex.org/W2040780606","https://openalex.org/W2045131720","https://openalex.org/W2045791858","https://openalex.org/W2066985307","https://openalex.org/W2075162142","https://openalex.org/W2075319133","https://openalex.org/W2080868874","https://openalex.org/W2084160423","https://openalex.org/W2088338354","https://openalex.org/W2092908962","https://openalex.org/W2098894238","https://openalex.org/W2101412130","https://openalex.org/W2104549677","https://openalex.org/W2105694586","https://openalex.org/W2106696739","https://openalex.org/W2107616280","https://openalex.org/W2109389832","https://openalex.org/W2114880905","https://openalex.org/W2117446594","https://openalex.org/W2117640066","https://openalex.org/W2123411711","https://openalex.org/W2124935187","https://openalex.org/W2125003131","https://openalex.org/W2141370108","https://openalex.org/W2141820415","https://openalex.org/W2144192604","https://openalex.org/W2146128933","https://openalex.org/W2147526198","https://openalex.org/W2148105023","https://openalex.org/W2148343731","https://openalex.org/W2154595610","https://openalex.org/W2154866190","https://openalex.org/W2157936723","https://openalex.org/W2159054625","https://openalex.org/W2160995259","https://openalex.org/W2166898290","https://openalex.org/W2167852161","https://openalex.org/W2169456326","https://openalex.org/W2171777347","https://openalex.org/W2197459998","https://openalex.org/W2259938310","https://openalex.org/W2510581268","https://openalex.org/W2595351638","https://openalex.org/W2604078450","https://openalex.org/W2605196967","https://openalex.org/W2666856234","https://openalex.org/W2761275051","https://openalex.org/W2770178180","https://openalex.org/W2806965771","https://openalex.org/W2885727518","https://openalex.org/W2897173636","https://openalex.org/W2911964244","https://openalex.org/W4248762244","https://openalex.org/W6949609713"],"related_works":["https://openalex.org/W2910574976","https://openalex.org/W6920979431","https://openalex.org/W6939723756","https://openalex.org/W2306132003","https://openalex.org/W6939449127","https://openalex.org/W3184418510","https://openalex.org/W2605196967","https://openalex.org/W4387476903","https://openalex.org/W2760053756","https://openalex.org/W7171434856"],"abstract_inverted_index":{"Abstract":[0],"A":[1],"large":[2],"number":[3,24],"of":[4,25,78,103,115],"single":[5],"nucleotide":[6],"variants":[7],"(SNVs)":[8],"in":[9,30,74],"the":[10,51,101],"human":[11],"genome":[12],"are":[13],"known":[14,42],"to":[15,34],"be":[16,35],"responsible":[17],"for":[18,37,89,117],"inherited":[19],"disease.":[20],"An":[21],"even":[22],"larger":[23],"SNVs,":[26],"particularly":[27],"those":[28],"located":[29],"introns,":[31],"have":[32],"yet":[33],"investigated":[36],"their":[38],"pathogenic":[39,43],"potential.":[40],"Using":[41,80],"and":[44,66,93,110],"neutral":[45],"intronic":[46],"SNVs":[47],"(iSNVs),":[48],"we":[49,95],"developed":[50],"regSNPs-intron":[52,70,97,109,120],"algorithm":[53],"based":[54],"on":[55,105],"a":[56,81],"random":[57],"forest":[58],"classifier":[59],"that":[60],"integrates":[61],"RNA":[62],"splicing,":[63],"protein":[64],"structure":[65],"evolutionary":[67],"conservation":[68],"features.":[69],"showed":[71],"high":[72],"accuracy":[73],"computing":[75],"disease-causing":[76],"probabilities":[77],"iSNVs.":[79],"high-throughput":[82],"functional":[83],"reporter":[84],"assay":[85],"called":[86],"ASSET-seq":[87,111],"(ASsay":[88],"Splicing":[90],"using":[91],"ExonTrap":[92],"sequencing),":[94],"validated":[96],"predictions":[98],"by":[99],"measuring":[100],"impact":[102],"iSNVs":[104,116],"splicing":[106],"outcome.":[107],"Together,":[108],"enable":[112],"effective":[113],"prioritization":[114],"disease":[118],"pathogenesis.":[119],"is":[121],"available":[122],"at":[123],"https://regsnps-intron.ccbb.iupui.edu":[124],".":[125]},"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":13},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":23},{"year":2021,"cited_by_count":14},{"year":2020,"cited_by_count":6}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2019-12-05T00:00:00"}
