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Journal article

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.

Abstract:

Genome-wide association studies (GWAS) have identified common variants of modest-effect size at hundreds of loci for common autoimmune diseases; however, a substantial fraction of heritability remains unexplained, to which rare variants may contribute. To discover rare variants and test them for association with a phenotype, most studies re-sequence a small initial sample size and then genotype the discovered variants in a larger sample set. This approach fails to analyse a large fraction of ...

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Publication status:
Published

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Publisher copy:
10.1038/nature12170

Authors


Bockett, NA More by this author
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Journal:
Nature
Volume:
498
Issue:
7453
Pages:
232-235
Publication date:
2013-06-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
URN:
uuid:1c8e72fb-3fa5-4e23-aeab-3b2ff1d71ba0
Source identifiers:
406101
Local pid:
pubs:406101

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