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Study Description

Genetic mutations causing human disease are conventionally thought to be inherited from one's parents and present in all somatic (body) cells. Increasingly however, somatic mutations are implicated in neurological diseases. Somatic mutations that arise during the cell divisions of prenatal brain development are inherited in clonal fashion and can cause neurodevelopmental diseases, even when present at low levels of mosaicism.

In this study we use whole genome sequencing of single neurons and bulk tissue to identify somatic mutations in control, and some disease, brains to: 1) identify and catalogue the mutations which shape the somatic neuronal genome; 2) perform a cell lineage analysis of the adult human brain using clonal somatic mutations in cortical neurons; 3) determine patterns of somatic mutations at different ages and in aging related disease phenotypes; and 4) relate cell lineage patterns to cell phenotype in the human brain by separating neuronal, glial, and other cell types.

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  • Study Type:
    • Case-Control
    • Case Set
  • Number of study subjects that have individual-level data available through Authorized Access:
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Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

Our current single neuron whole genome sequencing protocol requires that we use frozen brains, however, we are not able to produce high quality sequencing data from neurons isolated from all frozen brains. Thus, the first criterion was that we could obtain high quality WGS from single neurons isolated from the brain. For control samples, we used brains from individuals of different ages and sexes. There were a limited number of frozen brains for individuals who had Cockayne syndrome or Xeroderma pigmentosum, so we used what was available.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq X N/A N/A
Whole Genome Sequencing Illumina HiSeq 2000 N/A N/A
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Diseases/Traits Related to Study (MeSH terms)
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