Browsing by author "Whiffin, Nicola"
Now showing items 1-4 of 4
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly, MA; Caleshu, C; Morales, A; Buchan, J; Wolf, Z; et al. (NATURE PUBLISHING GROUP, 2018-03-01)PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ... -
Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.
Jäger, R; Migliorini, G; Henrion, M; Kandaswamy, R; Speedy, HE; et al. (NATURE PORTFOLIO, 2015-02-19)Multiple regulatory elements distant from their targets on the linear genome can influence the expression of a single gene through chromatin looping. Chromosome conformation capture implemented in Hi-C allows for genome-wide ... -
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Whiffin, N; Walsh, R; Govind, R; Edwards, M; Ahmad, M; et al. (NATURE PUBLISHING GROUP, 2018-10-01)PURPOSE: Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ... -
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.
Biffi, C; de Marvao, A; Attard, MI; Dawes, TJW; Whiffin, N; et al. (OXFORD UNIV PRESS, 2018-01-01)MOTIVATION: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and ...