期刊
BIOINFORMATICS
卷 30, 期 17, 页码 2496-2497出版社
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btu326
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资金
- National Institutes of Health [5K08AR055688, 1R01AR062886-01, 1U01HG0070033, T32 HG002295/HG/NHGRI, 7T32HG002295-10]
- Arthritis Foundation
- Doris Duke Foundation
A Summary: We created a fast, robust and general C + + implementation of a single-nucleotide polymorphism (SNP) set enrichment algorithm to identify cell types, tissues and pathways affected by risk loci. It tests trait-associated genomic loci for enrichment of specificity to conditions (cell types, tissues and pathways). We use a non-parametric statistical approach to compute empirical P-values by comparison with null SNP sets. As a proof of concept, we present novel applications of our method to four sets of genome-wide significant SNPs associated with red blood cell count, multiple sclerosis, celiac disease and HDL cholesterol.
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