![]() Thomas NHS Foundation Trust, Hospital Universitario Puerta de Hierro-Majadahonda, Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Guy’s and St. Thomas NHS Foundation Trust, Imperial College London - National Heart and Lung Institute, Imperial College London - National Heart and Lung Institute, Guy’s and St. Since the relationship between molecular consequence and likelihood of pathogenicity varies between genes with distinct molecular mechanisms, we. State-of-the-art machine learning tools are useful for genome-wide variant prioritisation but remain imprecise. Facebook gives people the power to share and makes the world more open and connected. Thomas NHS Foundation Trust, Guy’s and St. Background Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. Join Facebook to connect with Erica Mazaika and others you may know. Thomas NHS Foundation Trust, Norfolk and Norwich University Hospital & University of East Anglia, Imperial College London - Department of Epidemiology and Biostatistics, Guy’s and St. Thomas NHS Foundation Trust, Guy’s and St. Thomas NHS Foundation Trust, Norfolk and Norwich University Hospital & University of East Anglia, Government of the United Kingdom - Harefield Hospital, Government of the United Kingdom - Harefield Hospital, Guy’s and St. Thomas NHS Foundation Trust, Guy’s and St. Erica Mazaika's 19 research works with 1,104 citations and 3,991 reads, including: Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited. Thomas NHS Foundation Trust, Guy’s and St. Wellcome Trust 107469/Z/15/Z (Ware) Health Innovation Challenge Fund Award, Wellcome Trust & Department of Health HICF-R6-373 (Cook/Ware/Barton) British Heart Foundation SP/1 (Cook) NIGMS R01 GM104371 (MacArthur) NIDDK U54 DK105566 (MacArthur) MRC London Institute for Medical Sciences NIHR Royal Brompton. Thomas NHS Foundation Trust, Maastricht University - Centre for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), Imperial College London - Department of Epidemiology and Biostatistics, Guy’s and St. ![]() Thomas NHS Foundation Trust, Imperial College London - National Heart and Lung Institute (NHLI), Guy’s and St. Thomas NHS Foundation Trust, Maastricht University - Centre for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), Guy’s and St.
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