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dc.contributor.author Chronister, William D.
dc.contributor.author Burbulis, Ian E.
dc.contributor.author Wierman, Margaret B.
dc.contributor.author Wolpert, Matthew J.
dc.contributor.author Haakenson, Mark F.
dc.contributor.author Smith, Aiden C.B.
dc.contributor.author Kleinman, Joel E.
dc.contributor.author Hyde, Thomas M.
dc.contributor.author Weinberger, Daniel R.
dc.contributor.author Bekiranov, Stefan
dc.contributor.author McConnell, Michael J.
dc.date.accessioned 2024-09-26T00:25:17Z
dc.date.available 2024-09-26T00:25:17Z
dc.date.issued 2019-01-22
dc.identifier.issn 2211-1247
dc.identifier.uri https://repositorio.uss.cl/handle/uss/12079
dc.description Publisher Copyright: © 2019 The Author(s)
dc.description.abstract A subset of human neocortical neurons harbors complex karyotypes wherein megabase-scale copy-number variants (CNVs) alter allelic diversity. Divergent levels of neurons with complex karyotypes (CNV neurons) are reported in different individuals, yet genome-wide and familial studies implicitly assume a single brain genome when assessing the genetic risk architecture of neurological disease. We assembled a brain CNV atlas using a robust computational approach applied to a new dataset (>800 neurons from 5 neurotypical individuals) and to published data from 10 additional neurotypical individuals. The atlas reveals that the frequency of neocortical neurons with complex karyotypes varies widely among individuals, but this variability is not readily accounted for by tissue quality or CNV detection approach. Rather, the age of the individual is anti-correlated with CNV neuron frequency. Fewer CNV neurons are observed in aged individuals than in young individuals. en
dc.language.iso eng
dc.relation.ispartof vol. 26 Issue: no. 4 Pages: 825-835.e7
dc.source Cell Reports
dc.title Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex en
dc.type Artículo
dc.identifier.doi 10.1016/j.celrep.2018.12.107
dc.publisher.department Facultad de Medicina y Ciencia


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