{"id":"https://openalex.org/W4303423645","doi":"https://doi.org/10.1038/s41467-022-33642-w","title":"Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders","display_name":"Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders","publication_year":2022,"publication_date":"2022-10-07","ids":{"openalex":"https://openalex.org/W4303423645","doi":"https://doi.org/10.1038/s41467-022-33642-w","pmid":"https://pubmed.ncbi.nlm.nih.gov/36207339","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9546902"},"language":"en","primary_location":{"id":"doi:10.1038/s41467-022-33642-w","doi":"https://doi.org/10.1038/s41467-022-33642-w","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-022-33642-w","pdf_url":"https://www.nature.com/articles/s41467-022-33642-w.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41467-022-33642-w.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100659577","display_name":"Jun\u2010Ho Kim","orcid":"https://orcid.org/0000-0003-4462-2859","observed_orcids":["https://orcid.org/0000-0003-4462-2859","https://orcid.org/0000-0003-0432-9009"]},"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"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Junho Kim","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA","Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea","Department of Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043810530","display_name":"August Yue Huang","orcid":"https://orcid.org/0000-0002-0416-2854","observed_orcids":["https://orcid.org/0000-0002-0416-2854"]},"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"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"August Yue Huang","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA","Department of Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-0416-2854","affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017415911","display_name":"Shelby L. Johnson","orcid":"https://orcid.org/0000-0002-9161-3202","observed_orcids":["https://orcid.org/0000-0002-9161-3202"]},"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":"Shelby L. Johnson","raw_affiliation_strings":["Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089060057","display_name":"Jenny F. Lai","orcid":"https://orcid.org/0000-0002-4720-9229","observed_orcids":["https://orcid.org/0000-0002-4720-9229"]},"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"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jenny Lai","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA","Department of Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-4720-9229","affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027775385","display_name":"Laura Isacco","orcid":null,"observed_orcids":[]},"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/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura Isacco","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA","Department of Neurology, Harvard Medical School, Boston, MA, USA","Department of Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Neurology, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077391771","display_name":"Ailsa M. Jeffries","orcid":"https://orcid.org/0000-0001-6233-4215","observed_orcids":["https://orcid.org/0000-0001-6233-4215"]},"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":"Ailsa M. Jeffries","raw_affiliation_strings":["Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000702443","display_name":"Michael B. Miller","orcid":"https://orcid.org/0000-0002-6205-3314","observed_orcids":["https://orcid.org/0000-0002-6205-3314"]},"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/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"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/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael B. Miller","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA","Department of Neurology, Harvard Medical School, Boston, MA, USA","Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA","Department of Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-6205-3314","affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Neurology, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017519658","display_name":"Michael A. Lodato","orcid":"https://orcid.org/0000-0003-4175-1073","observed_orcids":["https://orcid.org/0000-0003-4175-1073"]},"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/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"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"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael A. Lodato","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA","Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA","Department of Neurology, Harvard Medical School, Boston, MA, USA","Department of Pediatrics, Harvard Medical School, Boston, MA, USA","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA","institution_ids":["https://openalex.org/I166722992"]},{"raw_affiliation_string":"Department of Neurology, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]}]},{"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/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Christopher A. Walsh","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA. christopher.walsh@childrens.harvard.edu","Department of Neurology, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","Department of Pediatrics, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-0156-2238","affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA. christopher.walsh@childrens.harvard.edu","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Neurology, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I1344073410","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]}]},{"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"]},{"id":"https://openalex.org/I4405269205","display_name":"Manton Center for Orphan Disease Research","ror":"https://ror.org/03drre408","country_code":"US","type":"facility","lineage":["https://openalex.org/I4405269205"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Eunjung Alice Lee","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA. EAlice.Lee@childrens.harvard.edu","Department of Pediatrics, Harvard Medical School, Boston, MA, USA. EAlice.Lee@childrens.harvard.edu","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. EAlice.Lee@childrens.harvard.edu","Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. EAlice.Lee@childrens.harvard.edu","Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":"https://orcid.org/0000-0002-6574-9261","affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA. EAlice.Lee@childrens.harvard.edu","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Pediatrics, Harvard Medical School, Boston, MA, USA. EAlice.Lee@childrens.harvard.edu","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. EAlice.Lee@childrens.harvard.edu","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. EAlice.Lee@childrens.harvard.edu","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4405269205"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5009957197","https://openalex.org/A5045270099"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I1288882113","https://openalex.org/I1344073410","https://openalex.org/I136199984","https://openalex.org/I4405269205"],"apc_list":{"value":5890,"currency":"USD","value_usd":5890},"apc_paid":{"value":5890,"currency":"USD","value_usd":5890},"fwci":1.876,"has_fulltext":true,"cited_by_count":27,"citation_normalized_percentile":{"value":0.8693819,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":98,"max":99},"biblio":{"volume":"13","issue":"1","first_page":"5918","last_page":"5918"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.9613999724388123,"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/T10123","display_name":"DNA Repair Mechanisms","score":0.9613999724388123,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.02370000071823597,"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/T11289","display_name":"Single-cell and spatial transcriptomics","score":0.0019000000320374966,"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/somatic-deletions","display_name":"somatic deletions","score":0.9940000176429749},{"id":"https://openalex.org/keywords/focal-deletions","display_name":"focal deletions","score":0.7799999713897705},{"id":"https://openalex.org/keywords/single-neurons","display_name":"single neurons","score":0.6790000200271606},{"id":"https://openalex.org/keywords/dna-double-strand-breaks","display_name":"DNA double-strand breaks","score":0.7310000061988831},{"id":"https://openalex.org/keywords/dna-repair-deficiency","display_name":"DNA repair deficiency","score":0.7720000147819519},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.925000011920929},{"id":"https://openalex.org/keywords/aging","display_name":"aging","score":0.703000009059906},{"id":"https://openalex.org/keywords/cockayne-syndrome","display_name":"Cockayne syndrome","score":0.9639999866485596},{"id":"https://openalex.org/keywords/xeroderma-pigmentosum","display_name":"xeroderma pigmentosum","score":0.996999979019165},{"id":"https://openalex.org/keywords/ataxia-telangiectasia","display_name":"ataxia telangiectasia","score":0.9570000171661377},{"id":"https://openalex.org/keywords/single-cell-whole-genome-sequencing","display_name":"single-cell whole-genome sequencing","score":0.8899999856948853},{"id":"https://openalex.org/keywords/gene-expression-in-brain","display_name":"brain gene expression","score":0.3799999952316284}],"concepts":[{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.8110959529876709},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.5625355839729309},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.5326962471008301},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5000684261322021},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49043986201286316},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.4400607943534851},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3616678714752197},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3397865295410156},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3216191530227661},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1927763819694519}],"mesh":[{"descriptor_ui":"D000375","descriptor_name":"Aging","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009153","descriptor_name":"Mutagens","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009474","descriptor_name":"Neurons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D049914","descriptor_name":"DNA Repair-Deficiency Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1038/s41467-022-33642-w","doi":"https://doi.org/10.1038/s41467-022-33642-w","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-022-33642-w","pdf_url":"https://www.nature.com/articles/s41467-022-33642-w.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9546902","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9546902","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nat Commun","raw_type":"Text"},{"id":"pmid:36207339","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36207339","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature communications","raw_type":"Journal Article"},{"id":"pmh:oai:RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-33642-w","doi":null,"is_oa":false,"landing_page_url":"https://www.nature.com/articles/s41467-022-33642-w","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:162ddeb312a542bf86be9477a455f1cc","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/162ddeb312a542bf86be9477a455f1cc","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41467-022-33642-w","doi":"https://doi.org/10.1038/s41467-022-33642-w","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-022-33642-w","pdf_url":"https://www.nature.com/articles/s41467-022-33642-w.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1197657044","display_name":"Genome-Wide Somatic Mutation in Alzheimer's Disease Pathogenesis Using Single Neuron Analysis","funder_award_id":"K08AG065502","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G1349577260","display_name":"Mechanism for endogenous retroelements to mimic ancient exogenous identities in aging and diseased human tissue","funder_award_id":"DP2AG072437","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G1388908201","display_name":null,"funder_award_id":"R01 NS032457","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G1424521977","display_name":null,"funder_award_id":"NRF-2022R1C1C1010430","funder_id":"https://openalex.org/F4320322120","funder_display_name":"National Research Foundation of Korea"},{"id":"https://openalex.org/G1826970265","display_name":"Vascular, Pulmonary and Renal Injury","funder_award_id":"T32HL007627","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G2218992114","display_name":null,"funder_award_id":"R00 AG054748","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G2338124754","display_name":"Genome-Wide Somatic Mutations in Alzheimer\u2019s Disease During Pathologic Progression","funder_award_id":"A20201292F","funder_id":"https://openalex.org/F4320308990","funder_display_name":"BrightFocus Foundation"},{"id":"https://openalex.org/G2373339882","display_name":null,"funder_award_id":"DP2 G072437","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G262780762","display_name":null,"funder_award_id":"NRF\u20102019R1A6A1A10073079","funder_id":"https://openalex.org/F4320322120","funder_display_name":"National Research Foundation of Korea"},{"id":"https://openalex.org/G2776647444","display_name":null,"funder_award_id":"NIH K01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2929379768","display_name":null,"funder_award_id":"U01 MH106883","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G2947081175","display_name":null,"funder_award_id":"2019R1A6A1A10073079","funder_id":"https://openalex.org/F4320322120","funder_display_name":"National Research Foundation of Korea"},{"id":"https://openalex.org/G3002166866","display_name":null,"funder_award_id":"NRF- 2019R1A6A1A10073079","funder_id":"https://openalex.org/F4320320671","funder_display_name":"National Research Foundation"},{"id":"https://openalex.org/G3522989319","display_name":"Medical Scientist Training Program","funder_award_id":"T32GM007753","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G3529731519","display_name":null,"funder_award_id":"DP2 G072437","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G3549828030","display_name":null,"funder_award_id":"NIH T32","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3687241855","display_name":null,"funder_award_id":"W18XWH2010028","funder_id":"https://openalex.org/F4320338273","funder_display_name":"Congressionally Directed Medical Research Programs"},{"id":"https://openalex.org/G4019737058","display_name":null,"funder_award_id":"2021183","funder_id":"https://openalex.org/F4320306134","funder_display_name":"Doris Duke Charitable Foundation"},{"id":"https://openalex.org/G5181568931","display_name":"The role of somatic mutation in neurodegenerative disease","funder_award_id":"K01AG051791","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5201394119","display_name":"1/2-Somatic mosaicism and autism spectrum disorder","funder_award_id":"U01MH106883","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G5847194857","display_name":"SINGLE-CELL ANALYSIS OF SOMATIC MUTATION IN AGING ANO NEUROOEGENERATIVE DISEASE IN THE HUMAN BRAIN","funder_award_id":"R00AG054748","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G6064773490","display_name":null,"funder_award_id":"T32HL007627","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G617146100","display_name":null,"funder_award_id":"2019R1A6A1A10073079","funder_id":"https://openalex.org/F4320320671","funder_display_name":"National Research Foundation"},{"id":"https://openalex.org/G7651559264","display_name":null,"funder_award_id":"K01 AG051791","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G7962882732","display_name":null,"funder_award_id":"W18XWH2010028","funder_id":"https://openalex.org/F4320306078","funder_display_name":"U.S. Department of Defense"},{"id":"https://openalex.org/G8849234563","display_name":null,"funder_award_id":"K08 AG065502","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G8867845400","display_name":null,"funder_award_id":"2022R1C1C1010430","funder_id":"https://openalex.org/F4320322120","funder_display_name":"National Research Foundation of Korea"},{"id":"https://openalex.org/G9000863310","display_name":"Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center","funder_award_id":"P50HD105351","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000864555","display_name":"Cell Identity Determination in Human Brain: Somatic Mutation and Cell Lineage","funder_award_id":"R01NS032457","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G9000883933","display_name":"Rates and mechanisms of age-related somatic mutation in normal and Alzheimer brain","funder_award_id":"R01AG070921","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G9000901346","display_name":"Medical Scientist Training Program","funder_award_id":"T32GM144273","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320306078","display_name":"U.S. Department of Defense","ror":"https://ror.org/0447fe631"},{"id":"https://openalex.org/F4320306082","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90"},{"id":"https://openalex.org/F4320306085","display_name":"U.S. Department of Health and Human Services","ror":"https://ror.org/033jnv181"},{"id":"https://openalex.org/F4320306134","display_name":"Doris Duke Charitable Foundation","ror":"https://ror.org/04n65rp89"},{"id":"https://openalex.org/F4320306216","display_name":"Paul G. Allen Family Foundation","ror":"https://ror.org/01degd278"},{"id":"https://openalex.org/F4320306891","display_name":"A-T Children's Project","ror":"https://ror.org/04g5yrp52"},{"id":"https://openalex.org/F4320308347","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94"},{"id":"https://openalex.org/F4320308990","display_name":"BrightFocus Foundation","ror":"https://ror.org/03cvfxv40"},{"id":"https://openalex.org/F4320320671","display_name":"National Research Foundation","ror":"https://ror.org/05s0g1g46"},{"id":"https://openalex.org/F4320322120","display_name":"National Research Foundation of Korea","ror":"https://ror.org/013aysd81"},{"id":"https://openalex.org/F4320322724","display_name":"Ministry of Education, India","ror":"https://ror.org/048xjjh50"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320338273","display_name":"Congressionally Directed Medical Research Programs","ror":"https://ror.org/03g2zjp07"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4303423645.pdf","grobid_xml":"https://content.openalex.org/works/W4303423645.grobid-xml"},"referenced_works_count":69,"referenced_works":["https://openalex.org/W1588736504","https://openalex.org/W1595360086","https://openalex.org/W1912672559","https://openalex.org/W1919257374","https://openalex.org/W1926851645","https://openalex.org/W1958582880","https://openalex.org/W1975410158","https://openalex.org/W1976927562","https://openalex.org/W1979594866","https://openalex.org/W1984068087","https://openalex.org/W1985623956","https://openalex.org/W1986992140","https://openalex.org/W2004257622","https://openalex.org/W2007325090","https://openalex.org/W2026709018","https://openalex.org/W2041937775","https://openalex.org/W2049118227","https://openalex.org/W2052036700","https://openalex.org/W2052860512","https://openalex.org/W2056013470","https://openalex.org/W2066803056","https://openalex.org/W2068674866","https://openalex.org/W2070174959","https://openalex.org/W2078851748","https://openalex.org/W2082019169","https://openalex.org/W2088013332","https://openalex.org/W2088470456","https://openalex.org/W2100634501","https://openalex.org/W2104549677","https://openalex.org/W2105970624","https://openalex.org/W2119180969","https://openalex.org/W2123490990","https://openalex.org/W2124037827","https://openalex.org/W2125644182","https://openalex.org/W2134526812","https://openalex.org/W2143196035","https://openalex.org/W2146005104","https://openalex.org/W2148229099","https://openalex.org/W2166657289","https://openalex.org/W2179438025","https://openalex.org/W2218943248","https://openalex.org/W2268858163","https://openalex.org/W2302351081","https://openalex.org/W2378580723","https://openalex.org/W2411962548","https://openalex.org/W2519643400","https://openalex.org/W2531796630","https://openalex.org/W2553312780","https://openalex.org/W2568674844","https://openalex.org/W2588907340","https://openalex.org/W2598149992","https://openalex.org/W2761275051","https://openalex.org/W2771602668","https://openalex.org/W2771974203","https://openalex.org/W2774506962","https://openalex.org/W2794210109","https://openalex.org/W2913421577","https://openalex.org/W2914750035","https://openalex.org/W2942621293","https://openalex.org/W2951414580","https://openalex.org/W2952634370","https://openalex.org/W2952794346","https://openalex.org/W2955620588","https://openalex.org/W2972330631","https://openalex.org/W3022071200","https://openalex.org/W3024340838","https://openalex.org/W3029661147","https://openalex.org/W4224234680","https://openalex.org/W4255169597"],"related_works":["https://openalex.org/W2774506962","https://openalex.org/W2776281278","https://openalex.org/W7171950326","https://openalex.org/W4403746095","https://openalex.org/W2977413235","https://openalex.org/W7213517412","https://openalex.org/W3092327868","https://openalex.org/W4392911081","https://openalex.org/W4316253811","https://openalex.org/W7214158808"],"abstract_inverted_index":{"Replication":[0],"errors":[1],"and":[2,20,41,67,92,100,125,139],"various":[3,90],"genotoxins":[4],"cause":[5],"DNA":[6,115],"double-strand":[7],"breaks":[8],"(DSBs)":[9],"where":[10],"error-prone":[11],"repair":[12,22,37],"creates":[13],"genomic":[14],"mutations,":[15],"most":[16],"frequently":[17],"focal":[18,65],"deletions,":[19],"defective":[21],"may":[23],"lead":[24],"to":[25,33,63,133],"neurodegeneration.":[26,148],"Despite":[27],"its":[28],"pathophysiological":[29],"importance,":[30],"the":[31,39,42],"extent":[32],"which":[34,45],"faulty":[35],"DSB":[36],"alters":[38],"genome,":[40],"mechanisms":[43,70],"by":[44],"mutations":[46],"arise,":[47],"have":[48],"not":[49],"been":[50],"systematically":[51],"examined":[52],"reflecting":[53],"ineffective":[54],"methods.":[55],"Here,":[56],"we":[57],"develop":[58],"PhaseDel,":[59],"a":[60],"computational":[61],"method":[62],"detect":[64],"deletions":[66,96,131,146],"characterize":[68],"underlying":[69],"in":[71,101,105,147],"single-cell":[72],"whole":[73],"genome":[74],"sequences":[75],"(scWGS).":[76],"We":[77],"analyzed":[78],"high-coverage":[79],"scWGS":[80],"of":[81,89,110],"107":[82],"single":[83,112],"neurons":[84,113],"from":[85,114],"18":[86],"neurotypical":[87],"individuals":[88],"ages,":[91],"found":[93],"that":[94],"somatic":[95,130,145],"increased":[97],"with":[98,118],"age":[99],"highly":[102],"expressed":[103],"genes":[104],"human":[106],"brain.":[107],"Our":[108],"analysis":[109],"50":[111],"repair-deficient":[116],"diseases":[117],"progressive":[119],"neurodegeneration":[120],"(Cockayne":[121],"syndrome,":[122],"Xeroderma":[123],"pigmentosum,":[124],"Ataxia":[126],"telangiectasia)":[127],"reveals":[128],"elevated":[129],"compared":[132],"age-matched":[134],"controls.":[135],"Distinctive":[136],"mechanistic":[137],"signatures":[138],"transcriptional":[140],"associations":[141],"suggest":[142],"roles":[143],"for":[144]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":6}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-10-07T00:00:00"}
