{"id":"https://openalex.org/W7011659629","doi":null,"title":"Multi-tissue integrative analysis of personal epigenomes [preprint]","display_name":"Multi-tissue integrative analysis of personal epigenomes [preprint]","publication_year":2021,"publication_date":"2021-04-26","ids":{"openalex":"https://openalex.org/W7011659629"},"language":"en","primary_location":{"id":"pmh:oai:escholarship.umassmed.edu:faculty_pubs-3050","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.umassmed.edu/faculty_pubs/2031","pdf_url":"https://escholarship.umassmed.edu/faculty_pubs/2031","source":{"id":"https://openalex.org/S4306400883","display_name":"The Journal of the American Medical Association (JAMA) Network (American Medical Association)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I173654999","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/I173654999"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"University of Massachusetts Medical School Faculty Publications","raw_type":"text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://escholarship.umassmed.edu/faculty_pubs/2031","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5022975867","display_name":"Joel S. Rozowsky","orcid":"https://orcid.org/0000-0002-3565-0762","observed_orcids":["https://orcid.org/0000-0002-3565-0762"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rozowsky, Joel","raw_affiliation_strings":["- Department of Molecular Biophysics and Biochemistry , Yale University , New Haven , CT , USA","- Program in Computational Biology and Bioinformatics , Yale University , New Haven , CT , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"- Department of Molecular Biophysics and Biochemistry , Yale University , New Haven , CT , USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"- Program in Computational Biology and Bioinformatics , Yale University , New Haven , CT , USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Moore, Jill E.","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Moore, Jill E.","raw_affiliation_strings":["-Program in Bioinformatics and Integrative Biology , University of Massachusetts Medical School , Worcester , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"-Program in Bioinformatics and Integrative Biology , University of Massachusetts Medical School , Worcester , MA , USA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037976483","display_name":"Henry Pratt","orcid":"https://orcid.org/0000-0001-9413-834X","observed_orcids":["https://orcid.org/0000-0001-9413-834X"]},"institutions":[{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Pratt, Henry E.","raw_affiliation_strings":["-Program in Bioinformatics and Integrative Biology , University of Massachusetts Medical School , Worcester , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"-Program in Bioinformatics and Integrative Biology , University of Massachusetts Medical School , Worcester , MA , USA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5150629687","display_name":"Zhiping Weng","orcid":"https://orcid.org/0000-0002-3032-7966","observed_orcids":["https://orcid.org/0000-0002-3032-7966"]},"institutions":[{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Weng, Zhiping","raw_affiliation_strings":["-Program in Bioinformatics and Integrative Biology , University of Massachusetts Medical School , Worcester , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"-Program in Bioinformatics and Integrative Biology , University of Massachusetts Medical School , Worcester , MA , USA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042321575","display_name":"Mark Gerstein","orcid":"https://orcid.org/0000-0002-9746-3719","observed_orcids":["https://orcid.org/0000-0002-9746-3719"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gerstein, Mark","raw_affiliation_strings":["- Department of Molecular Biophysics and Biochemistry , Yale University , New Haven , CT , USA","- Program in Computational Biology and Bioinformatics , Yale University , New Haven , CT , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"- Department of Molecular Biophysics and Biochemistry , Yale University , New Haven , CT , USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"- Program in Computational Biology and Bioinformatics , Yale University , New Haven , CT , USA","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.24647489,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.8657000064849854,"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"}},"topics":[{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.8657000064849854,"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":0.05530000105500221,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.025599999353289604,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/non-coding-regulatory-elements","display_name":"non-coding regulatory elements","score":0.7770000100135803},{"id":"https://openalex.org/keywords/allele-specific-expression","display_name":"allele-specific expression","score":0.753000020980835},{"id":"https://openalex.org/keywords/allelic-imbalance","display_name":"allelic imbalance","score":0.7870000004768372},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.9599999785423279},{"id":"https://openalex.org/keywords/chromatin-structure","display_name":"chromatin structure","score":0.9089999794960022},{"id":"https://openalex.org/keywords/encode","display_name":"ENCODE","score":0.49000000953674316},{"id":"https://openalex.org/keywords/tissue-specific-transcription","display_name":"tissue-specific transcription","score":0.5270000100135803},{"id":"https://openalex.org/keywords/long-read-sequencing","display_name":"long-read sequencing","score":0.656000018119812},{"id":"https://openalex.org/keywords/functional-genomics","display_name":"functional genomics","score":0.5730000138282776}],"concepts":[{"id":"https://openalex.org/C66746571","wikidata":"https://www.wikidata.org/wiki/Q1134833","display_name":"ENCODE","level":3,"score":0.732699990272522},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5859000086784363},{"id":"https://openalex.org/C83640560","wikidata":"https://www.wikidata.org/wiki/Q180951","display_name":"Chromatin","level":3,"score":0.5633000135421753},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5555999875068665},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.47519999742507935},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44609999656677246},{"id":"https://openalex.org/C90559484","wikidata":"https://www.wikidata.org/wiki/Q778379","display_name":"Expression (computer science)","level":2,"score":0.34610000252723694},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.34150001406669617},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3199000060558319},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.3084000051021576},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3059000074863434},{"id":"https://openalex.org/C27153228","wikidata":"https://www.wikidata.org/wiki/Q3787274","display_name":"Transcriptional regulation","level":4,"score":0.28839999437332153},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.2712000012397766},{"id":"https://openalex.org/C165864922","wikidata":"https://www.wikidata.org/wiki/Q411391","display_name":"Regulation of gene expression","level":3,"score":0.2687000036239624},{"id":"https://openalex.org/C2992339755","wikidata":"https://www.wikidata.org/wiki/Q3817769","display_name":"Transcriptional activity","level":4,"score":0.26499998569488525},{"id":"https://openalex.org/C179926584","wikidata":"https://www.wikidata.org/wiki/Q207714","display_name":"Transcription (linguistics)","level":2,"score":0.26080000400543213},{"id":"https://openalex.org/C188147891","wikidata":"https://www.wikidata.org/wiki/Q147638","display_name":"Cognitive science","level":1,"score":0.25679999589920044}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:escholarship.umassmed.edu:faculty_pubs-3050","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.umassmed.edu/faculty_pubs/2031","pdf_url":"https://escholarship.umassmed.edu/faculty_pubs/2031","source":{"id":"https://openalex.org/S4306400883","display_name":"The Journal of the American Medical Association (JAMA) Network (American Medical Association)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I173654999","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/I173654999"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"University of Massachusetts Medical School Faculty Publications","raw_type":"text"}],"best_oa_location":{"id":"pmh:oai:escholarship.umassmed.edu:faculty_pubs-3050","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.umassmed.edu/faculty_pubs/2031","pdf_url":"https://escholarship.umassmed.edu/faculty_pubs/2031","source":{"id":"https://openalex.org/S4306400883","display_name":"The Journal of the American Medical Association (JAMA) Network (American Medical Association)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I173654999","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/I173654999"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"University of Massachusetts Medical School Faculty Publications","raw_type":"text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.766700029373169}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7011659629.pdf","grobid_xml":"https://content.openalex.org/works/W7011659629.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3193732528","https://openalex.org/W3158144545","https://openalex.org/W2076154138","https://openalex.org/W7214540317","https://openalex.org/W2794001494","https://openalex.org/W2981257018","https://openalex.org/W1488502645","https://openalex.org/W1572203472","https://openalex.org/W4240859691","https://openalex.org/W2126551936"],"abstract_inverted_index":{"Evaluating":[0],"the":[1,82,87,112],"impact":[2],"of":[3],"genetic":[4],"variants":[5,65,75,100],"on":[6,22],"transcriptional":[7,49],"regulation":[8],"is":[9],"a":[10,23,63,117],"central":[11],"goal":[12],"in":[13],"biological":[14],"science":[15],"that":[16,95],"has":[17],"been":[18],"constrained":[19],"by":[20],"reliance":[21],"single":[24],"reference":[25],"genome.":[26],"To":[27],"address":[28],"this,":[29],"we":[30],"constructed":[31],"phased,":[32],"diploid":[33],"genomes":[34],"for":[35,99,119],"four":[36],"cadaveric":[37],"donors":[38],"(using":[39],"long-read":[40],"sequencing)":[41],"and":[42,48,73,92,103,108,111],"systematically":[43],"charted":[44],"noncoding":[45],"regulatory":[46],"elements":[47,94],"activity":[50],"across":[51],"more":[52],"than":[53],"25":[54],"tissues":[55],"from":[56],"these":[57],"donors.":[58],"Integrative":[59],"analysis":[60,85],"revealed":[61],"over":[62],"million":[64],"with":[66],"allele-specific":[67],"activity,":[68],"coordinated,":[69],"locus-scale":[70],"allelic":[71],"imbalances,":[72],"structural":[74],"impacting":[76,101],"proximal":[77],"chromatin":[78],"structure.":[79],"We":[80],"relate":[81],"personal":[83],"genome":[84],"to":[86],"ENCODE":[88],"encyclopedia,":[89],"annotating":[90],"allele-":[91],"tissue-specific":[93],"are":[96],"strongly":[97],"enriched":[98],"expression":[102],"disease":[104],"phenotypes.":[105],"These":[106],"experimental":[107],"statistical":[109],"approaches,":[110],"corresponding":[113],"EN-TEx":[114],"resource,":[115],"provide":[116],"framework":[118],"personalized":[120],"functional":[121],"genomics.":[122]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}
