{"id":"https://openalex.org/W4394098539","doi":"https://doi.org/10.6084/m9.figshare.17087816","title":"Additional file 5 of Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder","display_name":"Additional file 5 of Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder","publication_year":2021,"publication_date":"2021-01-01","ids":{"openalex":"https://openalex.org/W4394098539","doi":"https://doi.org/10.6084/m9.figshare.17087816"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/17087816","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_5_of_Whole-genome_analysis_reveals_the_contribution_of_non-coding_de_novo_transposon_insertions_to_autism_spectrum_disorder/17087816","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_5_of_Whole-genome_analysis_reveals_the_contribution_of_non-coding_de_novo_transposon_insertions_to_autism_spectrum_disorder/17087816","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059988595","display_name":"Rebeca Borges-Monroy","orcid":"https://orcid.org/0000-0001-5821-7630","observed_orcids":["https://orcid.org/0000-0001-5821-7630"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Borges-Monroy, Rebeca","raw_affiliation_strings":["Boston Children's Hospital","Harvard University","Broad Institute"],"raw_orcid":"https://orcid.org/0000-0001-5821-7630","affiliations":[{"raw_affiliation_string":"Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Broad Institute","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006355154","display_name":"Chong Chu","orcid":"https://orcid.org/0000-0002-0796-2339","observed_orcids":["https://orcid.org/0000-0002-0796-2339"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chu, Chong","raw_affiliation_strings":["Harvard University"],"raw_orcid":"https://orcid.org/0000-0002-0796-2339","affiliations":[{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005173482","display_name":"Caroline Dias","orcid":"https://orcid.org/0000-0003-1315-6007","observed_orcids":["https://orcid.org/0000-0003-1315-6007"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dias, Caroline","raw_affiliation_strings":["Boston Children's Hospital"],"raw_orcid":"https://orcid.org/0000-0003-1315-6007","affiliations":[{"raw_affiliation_string":"Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039677406","display_name":"Jaejoon Choi","orcid":"https://orcid.org/0000-0002-6695-2157","observed_orcids":["https://orcid.org/0000-0002-6695-2157"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Choi, Jaejoon","raw_affiliation_strings":["Boston Children's Hospital","Harvard University","Broad Institute"],"raw_orcid":"https://orcid.org/0000-0002-6695-2157","affiliations":[{"raw_affiliation_string":"Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Broad Institute","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100443294","display_name":"Soohyun Lee","orcid":"https://orcid.org/0000-0002-3594-6213","observed_orcids":["https://orcid.org/0000-0002-3594-6213"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lee, Soohyun","raw_affiliation_strings":["Harvard University"],"raw_orcid":"https://orcid.org/0000-0002-3594-6213","affiliations":[{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101442526","display_name":"Yue Gao","orcid":"https://orcid.org/0000-0003-0326-6472","observed_orcids":["https://orcid.org/0000-0003-0326-6472"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gao, Yue","raw_affiliation_strings":["Boston Children's Hospital","Harvard University","Broad Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Broad Institute","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001621049","display_name":"Taehwan Shin","orcid":"https://orcid.org/0000-0003-3604-8594","observed_orcids":["https://orcid.org/0000-0003-3604-8594"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shin, Taehwan","raw_affiliation_strings":["Boston Children's Hospital","Harvard University","Broad Institute"],"raw_orcid":"https://orcid.org/0000-0003-3604-8594","affiliations":[{"raw_affiliation_string":"Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Broad Institute","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022028438","display_name":"Peter J. Park","orcid":"https://orcid.org/0000-0001-9378-960X","observed_orcids":["https://orcid.org/0000-0001-9378-960X"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Park, Peter J.","raw_affiliation_strings":["Harvard University"],"raw_orcid":"https://orcid.org/0000-0001-9378-960X","affiliations":[{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009957197","display_name":"Christopher A. Walsh","orcid":"https://orcid.org/0000-0002-0156-2238","observed_orcids":["https://orcid.org/0000-0002-0156-2238","https://orcid.org/0000-0001-8867-4322"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Walsh, Christopher A.","raw_affiliation_strings":["Boston Children's Hospital","Harvard University","Broad Institute"],"raw_orcid":"https://orcid.org/0000-0002-0156-2238","affiliations":[{"raw_affiliation_string":"Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Broad Institute","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5045270099","display_name":"Eunjung Alice Lee","orcid":"https://orcid.org/0000-0002-6574-9261","observed_orcids":["https://orcid.org/0000-0002-6574-9261"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lee, Eunjung Alice","raw_affiliation_strings":["Boston Children's Hospital","Harvard University","Broad Institute"],"raw_orcid":"https://orcid.org/0000-0002-6574-9261","affiliations":[{"raw_affiliation_string":"Boston Children's Hospital","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Broad Institute","institution_ids":["https://openalex.org/I107606265"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.5996000170707703,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.5996000170707703,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.2619999945163727,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.11110000312328339,"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/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9580000042915344},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.7459999918937683},{"id":"https://openalex.org/keywords/transposable-element-insertion","display_name":"transposable element insertion","score":0.6060000061988831}],"concepts":[{"id":"https://openalex.org/C4918238","wikidata":"https://www.wikidata.org/wiki/Q121438","display_name":"Transposable element","level":4,"score":0.8009805679321289},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5738941431045532},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5568990111351013},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5543060302734375},{"id":"https://openalex.org/C2778538070","wikidata":"https://www.wikidata.org/wiki/Q1436063","display_name":"Autism spectrum disorder","level":3,"score":0.5154329538345337},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4385726749897003},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.41770192980766296},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.3281855583190918},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.1777169108390808},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14318442344665527},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.08423316478729248},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.07231444120407104},{"id":"https://openalex.org/C36289849","wikidata":"https://www.wikidata.org/wiki/Q34749","display_name":"Social science","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/17087816","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_5_of_Whole-genome_analysis_reveals_the_contribution_of_non-coding_de_novo_transposon_insertions_to_autism_spectrum_disorder/17087816","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.17087816","doi":"https://doi.org/10.6084/m9.figshare.17087816","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.17087816","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.17087816.v1","doi":"https://doi.org/10.6084/m9.figshare.17087816.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.17087816.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/17087816","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Additional_file_5_of_Whole-genome_analysis_reveals_the_contribution_of_non-coding_de_novo_transposon_insertions_to_autism_spectrum_disorder/17087816","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","id":"https://metadata.un.org/sdg/3","score":0.6240000128746033}],"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/W4394385922","https://openalex.org/W4394416583","https://openalex.org/W4394406363","https://openalex.org/W3217302128","https://openalex.org/W3126367886","https://openalex.org/W4283584813","https://openalex.org/W2059327830","https://openalex.org/W3192932924","https://openalex.org/W2903631495","https://openalex.org/W3009643672"],"abstract_inverted_index":{"Additional":[0],"file":[1],"5.":[2],"L1":[3],"polymorphic":[4],"and":[5],"de":[6],"novo":[7],"TEIs":[8],"for":[9],"the":[10],"entire":[11],"cohort":[12],"intervals":[13],"after":[14],"merging":[15],"with":[16],"a":[17],"40":[18],"base-pair":[19],"margin.":[20]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2024-04-08T00:00:00"}