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Intergenic disease-associated regions are abundant in novel transcripts

Abstract:

Background

Genotyping of large populations through genome-wide association studies (GWAS) has successfully identified many genomic variants associated with traits or disease risk. Unexpectedly, a large proportion of GWAS single nucleotide polymorphisms (SNPs) and associated haplotype blocks are in intronic and intergenic regions, hindering their functional evaluation. While some of these risk-susceptibility regions encompass cis-regulatory sites, their transcriptional potent...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1186/s13059-017-1363-3

Authors


Bartonicek, N More by this author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Psychiatry
Oxford college:
Wolfson College
Pritchard, AL More by this author
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Garvan Research Foundation More from this funder
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Grant:
ALTF 864-2013
Publisher:
BioMed Central Publisher's website
Journal:
Genome Biology Journal website
Volume:
18
Pages:
Article: 241
Publication date:
2017-12-28
Acceptance date:
2017-11-21
DOI:
EISSN:
1474-7596
ISSN:
1474-760X
Pubs id:
pubs:817282
URN:
uri:c0a0aa7e-9776-4d85-b498-d1fec43c89f8
UUID:
uuid:c0a0aa7e-9776-4d85-b498-d1fec43c89f8
Local pid:
pubs:817282
Language:
English
Keywords:

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