{"id":"https://openalex.org/W4394490730","doi":"https://doi.org/10.6084/m9.figshare.c.3787337_d7","title":"Additional file 6: Table S4. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability","display_name":"Additional file 6: Table S4. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability","publication_year":2017,"publication_date":"2017-01-01","ids":{"openalex":"https://openalex.org/W4394490730","doi":"https://doi.org/10.6084/m9.figshare.c.3787337_d7"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/5039063","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_6_Table_S4_of_Comprehensive_whole_genome_sequence_analyses_yields_novel_genetic_and_structural_insights_for_Intellectual_Disability/5039063","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"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":"","raw_type":"Dataset"},"volume":null,"type":"dataset","indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://figshare.com/articles/dataset/Additional_file_6_Table_S4_of_Comprehensive_whole_genome_sequence_analyses_yields_novel_genetic_and_structural_insights_for_Intellectual_Disability/5039063","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032669027","display_name":"Farah Zahir","orcid":"https://orcid.org/0000-0002-1810-3505","observed_orcids":["https://orcid.org/0000-0002-1810-3505"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zahir, Farah","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040183650","display_name":"Jill C. Mwenifumbo","orcid":"https://orcid.org/0000-0002-1420-1810","observed_orcids":["https://orcid.org/0000-0002-1420-1810"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mwenifumbo, Jill","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009455351","display_name":"Hye-Jung E. Chun","orcid":"https://orcid.org/0009-0005-1911-9487","observed_orcids":["https://orcid.org/0009-0005-1911-9487"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chun, Hye-Jung","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112099576","display_name":"Emilia L. Lim","orcid":"https://orcid.org/0009-0009-2954-1795","observed_orcids":["https://orcid.org/0009-0009-2954-1795"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lim, Emilia","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014139372","display_name":"Clara van Karnebeek","orcid":"https://orcid.org/0000-0002-2648-8337","observed_orcids":["https://orcid.org/0000-0002-2648-8337","https://orcid.org/0000-0003-3352-5631","https://orcid.org/0000-0002-6897-1888"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karnebeek, Clara Van","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091479511","display_name":"Madeline Couse","orcid":"https://orcid.org/0000-0002-3373-3214","observed_orcids":["https://orcid.org/0000-0002-3373-3214"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Couse, Madeline","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110552146","display_name":"Karen Mungall","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mungall, Karen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024858885","display_name":"Leora Lee","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lee, Leora","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054768043","display_name":"Nancy Makela","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Makela, Nancy","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014280043","display_name":"Linlea Armstrong","orcid":"https://orcid.org/0000-0002-8191-6429","observed_orcids":["https://orcid.org/0000-0002-8191-6429"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Linlea Armstrong","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091622048","display_name":"Cornelius F. Boerkoel","orcid":"https://orcid.org/0000-0003-3097-241X","observed_orcids":["https://orcid.org/0000-0003-3097-241X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Boerkoel, Cornelius","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006464025","display_name":"Sylvie Langlois","orcid":"https://orcid.org/0000-0001-9301-3625","observed_orcids":["https://orcid.org/0000-0001-9301-3625","https://orcid.org/0009-0004-7435-4984"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Langlois, Sylvie","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062737501","display_name":"Barbara C. McGillivray","orcid":"https://orcid.org/0000-0003-3426-8200","observed_orcids":["https://orcid.org/0000-0003-3426-8200"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"McGillivray, Barbara","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100728059","display_name":"Steven J.M. Jones","orcid":"https://orcid.org/0000-0003-3394-2208","observed_orcids":["https://orcid.org/0000-0003-3394-2208","https://orcid.org/0000-0002-3927-3562"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jones, Steven","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051852805","display_name":"Jan M. Friedman","orcid":"https://orcid.org/0000-0002-7482-9570","observed_orcids":["https://orcid.org/0000-0002-7482-9570"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Friedman, Jan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5070061359","display_name":"Marco A. Marra","orcid":"https://orcid.org/0000-0001-7146-7175","observed_orcids":["https://orcid.org/0000-0001-7146-7175"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marra, Marco","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9789999723434448,"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":0.9789999723434448,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.011800000444054604,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.006399999838322401,"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/intellectual-disability","display_name":"intellectual disability","score":1.0},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.9570000171661377},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.8849999904632568},{"id":"https://openalex.org/keywords/acmg-criteria","display_name":"ACMG criteria","score":0.8339999914169312},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.8700000047683716},{"id":"https://openalex.org/keywords/pathogenicity-prediction","display_name":"pathogenicity prediction","score":0.949999988079071},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.7120000123977661}],"concepts":[{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.7694807052612305},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.6086049675941467},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.6012108325958252},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5188949704170227},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.37446361780166626},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36605334281921387},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.36573272943496704},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.36237579584121704},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.3295744061470032},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.2898816764354706},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08922547101974487}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/5039063","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_6_Table_S4_of_Comprehensive_whole_genome_sequence_analyses_yields_novel_genetic_and_structural_insights_for_Intellectual_Disability/5039063","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"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":"","raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.c.3787337_d7","doi":"https://doi.org/10.6084/m9.figshare.c.3787337_d7","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.3787337_d7","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.c.3787337_d7.v1","doi":"https://doi.org/10.6084/m9.figshare.c.3787337_d7.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.3787337_d7.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"}],"best_oa_location":{"id":"pmh:oai:figshare.com:article/5039063","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_6_Table_S4_of_Comprehensive_whole_genome_sequence_analyses_yields_novel_genetic_and_structural_insights_for_Intellectual_Disability/5039063","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"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":"","raw_type":"Dataset"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8199999928474426}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7136057467","https://openalex.org/W4394180426","https://openalex.org/W4394425901","https://openalex.org/W2748421612","https://openalex.org/W2986705505","https://openalex.org/W3130380022","https://openalex.org/W2045392412","https://openalex.org/W4390444674","https://openalex.org/W2618209500","https://openalex.org/W4388817202"],"abstract_inverted_index":{"Detailed":[0],"variant":[1,15],"information":[2],"for":[3,14],"all":[4],"verified":[5],"variants,":[6],"including":[7],"ACMG":[8,26],"classification":[9,16],"\u00e2":[10],"Table":[11],"showing":[12],"details":[13,24],"such":[17],"as":[18],"pathogenicity":[19],"prediction":[20],"algorithms":[21],"results":[22],"and":[23],"of":[25],"criteria":[27],"application.":[28],"(XLSX":[29],"18":[30],"kb)":[31]},"counts_by_year":[],"updated_date":"2026-10-25T09:29:13.331239","created_date":"2024-04-08T00:00:00"}
