{"id":"https://openalex.org/W4394409936","doi":"https://doi.org/10.6084/m9.figshare.11775633","title":"Additional file 1 of A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data","display_name":"Additional file 1 of A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data","publication_year":2020,"publication_date":"2020-01-01","ids":{"openalex":"https://openalex.org/W4394409936","doi":"https://doi.org/10.6084/m9.figshare.11775633"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/11775633","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_A_highly_sensitive_and_specific_workflow_for_detecting_rare_copy-number_variants_from_exome_sequencing_data/11775633","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_1_of_A_highly_sensitive_and_specific_workflow_for_detecting_rare_copy-number_variants_from_exome_sequencing_data/11775633","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034041074","display_name":"Ramakrishnan Rajagopalan","orcid":"https://orcid.org/0000-0002-5751-9239","observed_orcids":["https://orcid.org/0000-0002-5751-9239"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ramakrishnan Rajagopalan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012334998","display_name":"Jill R. Murrell","orcid":"https://orcid.org/0000-0002-1885-8385","observed_orcids":["https://orcid.org/0000-0002-1885-8385"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Murrell, Jill","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047420072","display_name":"Minjie Luo","orcid":"https://orcid.org/0000-0002-5788-3962","observed_orcids":["https://orcid.org/0000-0002-5788-3962"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Minjie Luo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5049699006","display_name":"Laura Kathleen Conlin","orcid":"https://orcid.org/0000-0003-2330-8158","observed_orcids":["https://orcid.org/0000-0003-2330-8158"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Conlin, Laura","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":0.6958000063896179,"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":0.6958000063896179,"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":0.30000001192092896,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.9879999756813049},{"id":"https://openalex.org/keywords/rare-cnvs","display_name":"rare CNVs","score":0.621999979019165},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.9470000267028809},{"id":"https://openalex.org/keywords/snp-array","display_name":"SNP array","score":0.699999988079071},{"id":"https://openalex.org/keywords/false-discovery-rate","display_name":"false discovery rate","score":0.6819999814033508},{"id":"https://openalex.org/keywords/disease-genes","display_name":"disease-associated genes","score":0.7409999966621399},{"id":"https://openalex.org/keywords/mappability","display_name":"mappability","score":0.578000009059906}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6563061475753784},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5629863739013672},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5142561793327332},{"id":"https://openalex.org/C177212765","wikidata":"https://www.wikidata.org/wiki/Q627335","display_name":"Workflow","level":2,"score":0.504057765007019},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47669360041618347},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43554794788360596},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.43378469347953796},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4128567576408386},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.21525070071220398},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.20788460969924927},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.13154208660125732},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11850136518478394}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/11775633","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_A_highly_sensitive_and_specific_workflow_for_detecting_rare_copy-number_variants_from_exome_sequencing_data/11775633","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.11775633","doi":"https://doi.org/10.6084/m9.figshare.11775633","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.11775633","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.11775633.v1","doi":"https://doi.org/10.6084/m9.figshare.11775633.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.11775633.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/11775633","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_1_of_A_highly_sensitive_and_specific_workflow_for_detecting_rare_copy-number_variants_from_exome_sequencing_data/11775633","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":[{"display_name":"Good health and well-being","score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3"}],"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/W3008588777","https://openalex.org/W6902001338","https://openalex.org/W2489954968","https://openalex.org/W2921116198","https://openalex.org/W2153065499","https://openalex.org/W7098910611","https://openalex.org/W7208803308","https://openalex.org/W1997810974","https://openalex.org/W4296737221","https://openalex.org/W2171798166"],"abstract_inverted_index":{"Additional":[0],"file":[1],"1:":[2],"Table":[3,19,40,54,68],"S1.":[4],"Details":[5,42,56,70],"of":[6,22,36,43,57,71],"the":[7,15,44,58,78],"high-quality":[8],"true-positive":[9],"CNVs":[10,45,72],"from":[11],"SNP":[12,63,79,88],"array":[13,64,80],"and":[14,62,81],"exome":[16],"validation":[17],"status.":[18],"S2.":[20],"List":[21],"exons":[23],"in":[24,77],"disease-associated":[25],"genes":[26],"that":[27,73],"were":[28],"excluded":[29],"based":[30],"on":[31],"a":[32],"mean":[33],"mappabilty":[34],"score":[35],"0.75":[37],"or":[38],"less.":[39],"S3.":[41],"used":[46],"for":[47,83],"false-discovery":[48,85],"rate":[49,86],"estimation":[50],"against":[51,87],"WGS":[52],"data.":[53],"S4.":[55],"ES":[59],"false":[60,65],"negatives":[61],"positive":[66],"CNVs.":[67],"S5.":[69],"overlapped":[74],"10":[75],"SNPs":[76],"reviewed":[82],"determining":[84],"array.":[89]},"counts_by_year":[],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2024-04-08T00:00:00"}
