Article
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
Nature - 13 Jun 2013
Hunt Karen A, Mistry Vanisha, Bockett Nicholas A, Ahmad Tariq, Ban Maria, Barker Jonathan N, Barrett Jeffrey C, Blackburn Hannah, Brand Oliver, Burren Oliver, Capon Francesca, Compston Alastair, Gough Stephen C L, Jostins Luke, Kong Yong, Lee James C, Lek Monkol, MacArthur Daniel G, Mansfield John C, Mathew Christopher G, Mein Charles A, Mirza Muddassar, Nutland Sarah, Onengut-Gumuscu Suna, Papouli Efterpi, Parkes Miles, Rich Stephen S, Sawcer Steven, Satsangi Jack, Simmonds Matthew J, Trembath Richard C, Walker Neil M, Wozniak Eva, Todd John A, Simpson Michael A, Plagnol Vincent, van Heel David A
Abstract excerpt
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...
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