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
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2020-319180
Abstract: Objective Use next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian setting. Design A diagnostic study conducted between 2014 and 2019 (and ongoing) under the Singapore… read more here.
Keywords: diagnosis; disease; management; yield ... See more keywords
Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12081250
Abstract: Rare diseases cumulatively affect a significant number of people, and for many, a diagnosis remains elusive. The Victorian Undiagnosed Disease Program (UDP-Vic) utilizes deep phenotyping, advanced genomic sequencing and functional studies to diagnose children with… read more here.
Keywords: victorian undiagnosed; undiagnosed disease; disease; genomic sequencing ... See more keywords