Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data

• Published in: PloS one Vol. 8; no. 1; p. e54359
• Main Authors: Gerasimova, Anna, Chavez, Lukas, Li, Bin, Seumois, Gregory, Greenbaum, Jason, Rao, Anjana, Vijayanand, Pandurangan, Peters, Bjoern
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 30.01.2013; Public Library of Science (PLoS)
• Subjects: Airway management; Analysis; Asthma; Asthma - genetics; Asthma - physiopathology; Bioinformatics; Biology; Chromosomes; Consortia; Deoxyribonucleic acid; Disease; DNA; Enhancer Elements, Genetic; Enhancers; Epigenetic inheritance; Epigenetics; Epigenomics - methods; Genetic aspects; Genetic diversity; Genetic Linkage; Genetic Predisposition to Disease; Genome, Human; Genome-Wide Association Study; Genomes; Genomics; Humans; Immunology; Linkage Disequilibrium; Medical research; Pathogenesis; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Regulators; Regulatory sequences; Regulatory Sequences, Nucleic Acid; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Studies; Transcription; Transcription (Genetics); Transcription factors; La Jolla California; California

Genome-wide association studies (GWASs) identify single nucleotide polymorphisms (SNPs) that are enriched in individuals suffering from a given disease. Most disease-associated SNPs fall into non-coding regions, so that it is not straightforward to infer phenotype or function; moreover, many SNPs ar...