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Younger, Scott

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research overview

The vast majority of rare diseases in children are thought to result from underlying variations in the sequence of their DNA. However, distinguishing the specific genetic variants that cause disease and deciphering their functional consequences remains a major challenge. The Younger Lab integrates a series of research programs (i.e. Variant Identification, Variant Prioritization, Genetic Modeling, and Functional Profiling) to accelerate the process of translating the clinical detection of genetic variants into meaningful and actionable biological discoveries.

One or more keywords matched the following items that are connected to Younger, Scott

Item Type	Name
Concept	Rare Diseases
Academic Article	Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.
Academic Article	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article	Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.
Academic Article	Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.

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Rare Disease