Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

By L. Hindorff, Praveen Sethupathy, Heather Junkins, E. Ramos, Jayashri P. Mehta, F. S. Collins, Teri Manolio. Proceedings of the National Academy of Sciences of the United States of America, 2009

4,227 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/00a59e7e17a0baaef91dcadc72775e30859d74be

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Citations in the corpus

The UCSC Genome Browser (2003, neutral): “) ( Hindorff et al., 2009 ).”
Super-enhancers in the control of cell identity and disease. (2013, neutral): “It is important to further understand enhancers and their components because they control specific gene expression programs, and much disease-associated sequence variation occurs in these regulatory elements (Grossman et al., 2013; Hindorff et al., 2009; Lee and Young, 2013; Maurano et al., 2012).”
Finding the missing heritability of complex diseases (2009, background): “(3) Assess inheritance patterns of rare and structural variants.”
Common SNPs explain a large proportion of heritability for human height (2010, background): “608" language="eng" relation="no"> GWASs in human populations have discovered hundreds of SNPs significantly associated with complex trait”
Annotation of functional variation in personal genomes using RegulomeDB (2012, methodology): “However, ; 95% of known variants within sequenced genomes and 88% of those variants from GWAS studies fall outside of coding regions and have been difficult to interpret (Hindorff et al. 2009).”
Network-based in silico drug efficacy screening (2016, neutral): “For each disease, we retrieve associated genes from the OMIM database 2 and the GWAS catalog 15 .”