ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24364
Abstract: Next‐generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. Although this technology resolves some cases, others are given a list of possibly damaging… read more here.
Keywords: undiagnosed disease; disease; rare undiagnosed; stakeholders rare ... See more keywords
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0295-y
Abstract: PurposeCurrent diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a single platform. Here we evaluate copy-number… read more here.
Keywords: rare undiagnosed; copy number; variants clinical; number ... See more keywords