Article

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

2021-10-01

Abstract excerpt

Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases, and has played a significant role in rare disease gene discovery. While this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients can help resolve such medical mysteries, and provide insi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 64518e31-7d55-5e0d-ae30-645c6e8094d6
DOI: 10.1101/2021.09.30.462504

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease researchDOI 10.1101/2021.09.30.462504Read

Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmakingSemantic proximity Read

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.Semantic proximity Read

Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.Semantic proximity Read

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.Semantic proximity Read

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.Semantic proximity Read

One-Sided Matching Portal (OSMP): a tool to facilitate rare disease patient matchmakingSemantic proximity Read

The Matchmaker Exchange: a platform for rare disease gene discovery.Semantic proximity Read

Matchmaker Exchange.Semantic proximity Read

Discovery of over 200 new and expanded genetic conditions using GeneMatcher.Semantic proximity Read

Variant-level Matching ToolsSemantic proximity Read

PhenomeCentral: 7 years of rare disease matchmaking.Semantic proximity Read

PhenomeCentral: 7 years of rare disease matchmakingSemantic proximity Read