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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.Academic Article Why?
Younger, ScottPerson Why?
Grundberg, ElinPerson Why?
Smail, CraigPerson Why?
Sampath, VenkateshPerson Why?
Identification of functional regulatory elements in the human genome using pooled CRISPR screens.Academic Article Why?
Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.Academic Article Why?
Gaedigk, AndreaPerson Why?
Goggin, KathyPerson Why?
Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.Academic Article Why?
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.Academic Article Why?
Pastinen, TomiPerson Why?
Less Lumping, Smarter Splitting: Genomics and Metabolomics of Systemic Steroid Response in Bronchopulmonary DysplasiaGrant Why?
Leeder, J. StevenPerson Why?
Cheung, WarrenPerson Why?
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