{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Thorpe J"],"funding":["NICHD NIH HHS","NIMH NIH HHS"],"pagination":["487-510"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8483770"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["54"],"pubmed_abstract":["Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring. Somatic mosaicism is a postzygotic mutation that occurs in the soma, and it may occur at any developmental stage or in adult tissues. Mosaic variation may be classified in six ways: (<i>a</i>) germline or somatic origin, (<i>b</i>) class of DNA mutation (ranging in scale from single base pairs to multiple chromosomes), (<i>c</i>) developmental context, (<i>d</i>) body location(s), (<i>e</i>) functional consequence (including deleterious, neutral, or advantageous), and (<i>f</i>) additional sources of mosaicism, including mitochondrial heteroplasmy, exogenous DNA sources such as vectors, a"],"journal":["Annual review of genetics"],"pubmed_title":["Mosaicism in Human Health and Disease."],"pmcid":["PMC8483770"],"funding_grant_id":["P50 HD103538","U01 MH106884","U54 HD079123"],"pubmed_authors":["Tupler R","Pevsner J","Thorpe J","Avigdor BE","Osei-Owusu IA"],"additional_accession":[]},"is_claimable":false,"name":"Mosaicism in Human Health and Disease.","description":"Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring. Somatic mosaicism is a postzygotic mutation that occurs in the soma, and it may occur at any developmental stage or in adult tissues. Mosaic variation may be classified in six ways: (<i>a</i>) germline or somatic origin, (<i>b</i>) class of DNA mutation (ranging in scale from single base pairs to multiple chromosomes), (<i>c</i>) developmental context, (<i>d</i>) body location(s), (<i>e</i>) functional consequence (including deleterious, neutral, or advantageous), and (<i>f</i>) additional sources of mosaicism, including mitochondrial heteroplasmy, exogenous DNA sources such as vectors, a","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2025-04-05T09:54:43.289Z","creation":"2022-02-11T11:46:33.872Z"},"accession":"S-EPMC8483770","cross_references":{"pubmed":["32916079"],"doi":["10.1146/annurev-genet-041720-093403"]}}