Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

In addition, allele frequencies derived from the pooled sequencing experiment were compared to those derived from all individuals in the phase II genotype data and revealed a highly significant correlation (r = 0.971, p < 6.58x10 −48 ), further supporting the validity of the pooled sequencing approach.

also in 82,236 other papers

We chose variants that a) surpassed multiple testing in the pooled sequencing based case-control comparison (p < 10 −5 ), b) were modestly significant in the pooled sequencing based case-control comparison (p < 0.05) and had a low allele frequency (MAF < 5%), c) had functional consequence (within 20bp of a splice acceptor or donor site or non-synonymous variant), and were novel or low frequency (< 1%), d) were absent from one group (either controls or cases) and had a functional consequence (within 20bp of a splice acceptor or donor site or non-synonymous variant).

also in 159 other papers