Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical epidemiology"
DOI: 10.1016/j.jclinepi.2017.08.020
Abstract: Genome-wide (exome or whole genome) sequencing with appropriate genetic counseling should be considered for any patient with a suspected Mendelian disease that has not been identified by conventional testing. Clinical genome-wide sequencing provides a powerful… read more here.
Keywords: genome wide; debate clinical; clinical genome; wide sequencing ... See more keywords
A primer to clinical genome sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000000532
Abstract: Purpose of review Genome sequencing is now available as a clinical diagnostic test. There is a significant knowledge and translation gap for nongenetic specialists of the processes necessary to generate and interpret clinical genome sequencing.… read more here.
Keywords: clinical genome; primer clinical; genome sequencing; genome ... See more keywords
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a004739
Abstract: We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight… read more here.
Keywords: genome resource; clinical genome; case; curation ... See more keywords
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
Sign Up to like & getrecommendations! Published in 2021 at "Circulation. Genomic and Precision Medicine"
DOI: 10.1161/circgen.120.003273
Abstract: Supplemental Digital Content is available in the text. Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended, and a pathogenic variant in… read more here.
Keywords: arvc; gene; genome resource; clinical genome ... See more keywords