Recent advances and challenges of rare variant association analysis in the biobank sequencing era
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1014947
Abstract: Causal variants for rare genetic diseases are often rare in the general population. Rare variants may also contribute to common complex traits and can have much larger per-allele effect sizes than common variants, although power… read more here.
Keywords: challenges rare; association analysis; variant association; rare variant ... See more keywords
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12071711
Abstract: Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a… read more here.
Keywords: challenges rare; heterozygous gba; diseases diagnostics; incontinentia pigmenti ... See more keywords
Diagnostic Challenges in Rare Causes of Arrhythmogenic Cardiomyopathy—The Role of Cardiac MRI
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12020187
Abstract: Arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic condition of the myocardium, with a significantly high risk of sudden death. Recent genetic research and improved understanding of the pathophysiology tend to change the ARVD… read more here.
Keywords: challenges rare; cardiac mri; arrhythmogenic cardiomyopathy; rare causes ... See more keywords