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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
TLDR
A meta-analysis of Crohn’s disease and ulcerative colitis genome-wide association scans is undertaken, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls. Expand
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
TLDR
18 new loci associated with body mass index are identified, one of which includes a copy number variant near GPRC5B, and genes in other newly associated loci may provide new insights into human body weight regulation. Expand
The landscape of somatic copy-number alteration across human cancers
TLDR
It is demonstrated that cancer cells containing amplifications surrounding the MCL1 and BCL2L1 anti-apoptotic genes depend on the expression of these genes for survival, and a large majority of SCNAs identified in individual cancer types are present in several cancer types. Expand
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
TLDR
A meta-analysis of six Crohn's disease genome-wide association studies and a series of in silico analyses highlighted particular genes within these loci implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Expand
Partitioning heritability by functional annotation using genome-wide association summary statistics
TLDR
A new method is introduced, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers, which is computationally tractable at very large sample sizes and leverages genome-wide information. Expand
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
TLDR
A meta-analysis of genetic variants on the Metabochip, including 34,840 cases and 114,981 controls, finds a long tail of additional common variant loci explaining much of the variation in susceptibility to type 2 diabetes. Expand
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
TLDR
By combining genome-wide association data from 8,130 individuals with type 2 diabetes and 38,987 controls of European descent and following up previously unidentified meta-analysis signals, 12 new T2D association signals are identified with combined P < 5 × 10−8. Expand
Principal components analysis to summarize microarray experiments: application to sporulation time series.
TLDR
This work shows that application of PCA to expression data allows us to summarize the ways in which gene responses vary under different conditions, and suggests that much of the observed variability in the experiment can be summarized in just 2 components. Expand
Hundreds of variants clustered in genomic loci and biological pathways affect human height
TLDR
It is shown that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait, and indicates that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways. Expand
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
TLDR
Light is shed on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility and within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. Expand
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