Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.

By Alexander Gusev, S. Hong Lee, G. Trynka, Hilary K Finucane, Bjarni J. Vilhjálmsson, Han Xu, Chongzhi Zang, S. Ripke, Brendan K. Bulik-Sullivan, Eli A. Stahl and 309 more. American Journal of Human Genetics, 2014

595 citations recorded by the source corpus.

Subfields: Gastroenterology, Genetics

View Paper: https://www.semanticscholar.org/paper/3ae808b883b815c5f284df4a03bc5d8f1dd33d2d

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Citations in the corpus

A SPECTRAL APPROACH INTEGRATING FUNCTIONAL GENOMIC ANNOTATIONS FOR CODING AND NONCODING VARIANTS (2016, background): “The shift from supervised (CADD, GWAVA) to unsupervised algorithms as discussed here reduces the dependence on existing databases of observed variants, previously characterized elements and existing models of mutation, and allows extensions to cell type/tissue specific scores [16, 17, 37, 40, 41, 42”
Integrative omics for health and disease (2018, background): “…elucidated the relative contribution of coding and regulatory variants, suggesting that the bulk of heritability of many common traits stems from variants in regulatory regions (regions of open chromatin as measured by DNase hypersensitivity ) 42 , as well as many cell type-specific enhancers 43 .”
Partitioning heritability by functional annotation using genome-wide association summary statistics (2015, methodology): “The 24 main annotations include: coding, UTR, promoter, and intron [14, 17]; histone marks H3K4me1, H3K4me3, H3K9ac [3–5] and two versions of H3K27ac [18, 19]; open chromatin reflected by DNase I hypersensitivity Site (DHS) regions [5, 14]; combined chromHMM/Segway predictions [20], which make use o”
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015, background): “Mapping genetic variants to gene expression and PPI networks has been fruitful, but most disease-associated variation in complex diseases lies in the noncoding regulatory regions of the genome 188 .”
A method to predict the impact of regulatory variants from DNA sequence (2015, background): “…human disease by GWAS predominantly lie in noncoding genomic regions 1 and occur within putative regulatory elements far more often than expected by chance 2,3 , suggesting that disruption of regulatory function is a common mechanism by which noncoding sequence variants contribute to human disease.”