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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.Academic Article Why?
Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation.Academic Article Why?
Proteasome beta subunit pharmacogenomics: gene resequencing and functional genomics.Academic Article Why?
Younger, ScottPerson Why?
Grundberg, ElinPerson Why?
Smail, CraigPerson Why?
Sampath, VenkateshPerson Why?
Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization.Academic Article Why?
Fridley, BrookePerson 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?
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?
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