{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Elfman J"],"funding":["National Institutes of Health","NIH HHS","NIGMS NIH HHS"],"pagination":["4409-4421"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11077074"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["52(8)"],"pubmed_abstract":["Gene fusions and their chimeric products are commonly linked with cancer. However, recent studies have found chimeric transcripts in non-cancer tissues and cell lines. Large-scale efforts to annotate structural variations have identified gene fusions capable of generating chimeric transcripts even in normal tissues. In this study, we present a bottom-up approach targeting population-specific chimeric RNAs, identifying 58 such instances in the GTEx cohort, including notable cases such as SUZ12P1-CRLF3, TFG-ADGRG7 and TRPM4-PPFIA3, which possess distinct patterns across different ancestry groups. We provide direct evidence for an additional 29 polymorphic chimeric RNAs with associated structural variants, revealing 13 novel rare structural variants. Additionally, we utilize the All of Us dat"],"journal":["Nucleic acids research"],"pubmed_title":["Discovery of a polymorphic gene fusion via bottom-up chimeric RNA prediction."],"pmcid":["PMC11077074"],"funding_grant_id":["OT2 OD026555","OT2 OD026554","R01 GM132138","OT2 OD026557","OT2 OD026556","OT2 OD026548","OT2 OD025315","OT2 OD025337","OT2 OD023205","OT2 OD026549","OT2 OD023206","R01GM132138","OT2 OD026551","OT2 OD026550","OT2 OD026553","OT2 OD025277","OT2 OD025276","OT2 OD026552","U24 OD023121","U24 OD023176","R01 GM101192","U24 OD023163","U2C OD023196"],"pubmed_authors":["Li H","Heller T","Elfman J","Singh S","Goins L","Wang YH"],"additional_accession":[]},"is_claimable":false,"name":"Discovery of a polymorphic gene fusion via bottom-up chimeric RNA prediction.","description":"Gene fusions and their chimeric products are commonly linked with cancer. However, recent studies have found chimeric transcripts in non-cancer tissues and cell lines. Large-scale efforts to annotate structural variations have identified gene fusions capable of generating chimeric transcripts even in normal tissues. In this study, we present a bottom-up approach targeting population-specific chimeric RNAs, identifying 58 such instances in the GTEx cohort, including notable cases such as SUZ12P1-CRLF3, TFG-ADGRG7 and TRPM4-PPFIA3, which possess distinct patterns across different ancestry groups. We provide direct evidence for an additional 29 polymorphic chimeric RNAs with associated structural variants, revealing 13 novel rare structural variants. Additionally, we utilize the All of Us dat","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-04-25T03:26:51.773Z","creation":"2025-08-17T03:06:06.56Z"},"accession":"S-EPMC11077074","cross_references":{"pubmed":["38587197"],"doi":["10.1093/nar/gkae258"]}}