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Journal article

Frequency and signature of somatic variants in 1461 human brain exomes

Abstract:

Purpose

To systematically study somatic variants arising during development in the human brain across a spectrum of neurodegenerative disorders.

Methods

In this study we developed a pipeline to identify somatic variants from exome sequencing data in 1461 diseased and control human brains. Eighty-eight percent of the DNA samples were extracted from the cerebellum. Identified somatic variants were validated by targeted amplicon sequencin...

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Publication status:
Published
Peer review status:
Peer reviewed

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Files:
Publisher copy:
10.1038/s41436-018-0274-3

Authors


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National Institute for Health Research More from this funder
Publisher:
Springer Nature Publisher's website
Journal:
Genetics in Medicine Journal website
Volume:
21
Issue:
4
Pages:
904–912
Publication date:
2018-09-14
Acceptance date:
2018-08-06
DOI:
EISSN:
1530-0366
ISSN:
1098-3600
Pmid:
30214067
Source identifiers:
920709
Language:
English
Keywords:
Pubs id:
pubs:920709
UUID:
uuid:851b22b5-6dc2-4a02-9ce5-5a6ed1224a29
Local pid:
pubs:920709
Deposit date:
2018-11-06

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