Work

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

Year: 2020

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2020.08.019

Authors: Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain, Sofie Metsu, Hugh Olsen, Benedict Paten, Beate Ritz, R. Frank Kooy, Jozef Gecz, Andrew J. Sharp

Institutions: Icahn School of Medicine at Mount Sinai, University of California, Santa Cruz, University of Antwerp, University of California, Los Angeles, South Australia Pathology, South Australian Health and Medical Research Institute, The University of Adelaide

Language: English

Topic: Epigenetics and DNA Methylation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Foundation for the National Institutes of Health, U.S. Department of Health and Human Services, American Heart Association, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Universiteit Antwerpen, National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of Neurological Disorders and Stroke, National Institute of Environmental Health Sciences, NHLBI Division of Intramural Research

Awards: G1028663679, G1050918383, G1177451333, G1378799582, G1471908156, G1490530680, G1851278524, Environmental exposure, DNA methylation, and Parkinson's disease, G2092188715, G2209176514, G2338346131, G250621538, G278200998, G3062349281, G3069585042, Identification of novel pathogenic tandem repeat expansions using long read sequencing, G3121967442, Transforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC Supercomputer, G3405256882, G3586187087, G3643850837, G3667269547, G3819938352, G3900787601, Parkinson's Diseases Susceptibility Genes and Pesticides, Big Omics Data Engine 2 Supercomputer, G4546180501, G4625389632, G5164707915, Center for Gene Environment in Parkinson's Disease, G5310595226, Identification of novel pathogenic tandem repeat expansions using long read sequencing, The Framingham Heart Study, G6694253514, G700120080, G7332203415, G757750085, G7689122240, G8606882599, G8683204365, G8776062500, G915959914, G995036686

OpenAlex ID: W3084542498

FWCI: 3.567

Cites: 60

Cited by: 63

Related to: 10