Dies ist eine Übersichtsseite mit Metadaten zu dieser wissenschaftlichen Arbeit. Der vollständige Artikel ist beim Verlag verfügbar.
Structural Evaluation of <i>RYR2</i> -CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance
0
Zitationen
11
Autoren
2026
Jahr
Abstract
Traditional categorical variant annotations limit accurate disease risk assessment, especially in populations unascertained for disease. A probabilistic, population-calibrated penetrance framework enables more meaningful prospective variant interpretation. Our Bayesian CPVT-prior outperforms current tools in evaluating RYR2 variant penetrance. We provide prospective Bayesian CPVT penetrance values for 29 242 RYR2 missense variants at our online variant browser.
Ähnliche Arbeiten
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 · 31.501 Zit.
A global reference for human genetic variation
2015 · 19.697 Zit.
The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data
2012 · 18.228 Zit.
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
2010 · 15.439 Zit.
A method and server for predicting damaging missense mutations
2010 · 13.500 Zit.