Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
- L. Jostins, S. Ripke, Judy H. Cho
- BiologyNature
- 9 October 2012
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.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- E. Speliotes, C. Willer, R. Loos
- Biology, Medicine
- 2010
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.
The landscape of somatic copy-number alteration across human cancers
- R. Beroukhim, C. Mermel, M. Meyerson
- BiologyNature
- 22 January 2010
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.
Fast, sensitive, and accurate integration of single cell data with Harmony
- I. Korsunsky, Jean Fan, S. Raychaudhuri
- BiologybioRxiv
- 4 November 2018
Harmony, for the integration of single-cell transcriptomic data, identifies broad and fine-grained populations, scales to large datasets, and can integrate sequencing- and imaging-based data.
Partitioning heritability by functional annotation using genome-wide association summary statistics
- H. Finucane, B. Bulik-Sullivan, A. Price
- BiologyNature Genetics
- 11 September 2015
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.
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
- A. Franke, D. McGovern, M. Parkes
- BiologyNature Genetics
- 1 December 2010
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.
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
- A. Morris, B. Voight, M. McCarthy
- BiologyNature Genetics
- 26 July 2012
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.
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
- B. Voight, L. Scott, M. McCarthy
- BiologyNature Genetics
- 1 July 2010
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.
Hundreds of variants clustered in genomic loci and biological pathways affect human height
- H. Lango Allen, K. Estrada, J. Hirschhorn
- BiologyNature
- 10 August 2010
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.
Genetics of rheumatoid arthritis contributes to biology and drug discovery
A genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries provides empirical evidence that the genetics of RA can provide important information for drug discovery, and sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis.
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