Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Year: 2019
Type: article
Institutions: National Health Service, Royal Brompton & Harefield NHS Foundation Trust, National Institute for Health and Care Research, NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Imperial College London, Medical Research Council, Broad Institute, Harvard University, Massachusetts General Hospital, Massachusetts Institute of Technology, Mass General Brigham, University of Oxford, National Heart Centre Singapore
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funders: Wellcome Trust, National Institute for Health and Care Research, British Heart Foundation, Imperial College London, Rosetrees Trust, Fondation Leducq, National Institutes of Health, Medical Research Council, NIHR Imperial Biomedical Research Centre, National Human Genome Research Institute, National Institute of General Medical Sciences, National Institute of Allergy and Infectious Diseases, National Institute of Diabetes and Digestive and Kidney Diseases
Awards: G1209099612, G2058173175, Next generation sequencing of inherited cardiac conditions, G2512866349, G2795716607, G3759812594, Evaluating exome sequencing as a tool for diagnostic genetic testing and disease gene discovery in the NHS: A case study using Hypertrophic Cardiomyopathy (HCM)., G5002168730, Genomic dissection of inherited cardiomyopathies: identifying alleles, genes and mechanisms, for patient stratification., Genomic, epigenomic and systems dissection of mechanisms underlying dilated cardiomyopathy, G6868616705, Comprehensive molecular diagnostics for inherited cardiac disease, G7237433030, G849084591, Genomic dissection of inherited cardiomyopathies: identifying alleles, genes and mechanisms, for patient stratification., G9000096738, G9000124804, G9000172847, G9000254147, Training Grant in Genetics
OpenAlex ID: W2906954304