Search Results (10)
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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. | Academic Article |
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Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation. | Academic Article |
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Proteasome beta subunit pharmacogenomics: gene resequencing and functional genomics. | Academic Article |
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Younger, Scott | Person |
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Grundberg, Elin | Person |
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Smail, Craig | Person |
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Sampath, Venkatesh | Person |
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Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization. | Academic Article |
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Fridley, Brooke | Person |
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Identification of functional regulatory elements in the human genome using pooled CRISPR screens. | Academic Article |
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Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells. | Academic Article |
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Gaedigk, Andrea | Person |
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Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants. | Academic Article |
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Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. | Academic Article |
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Pastinen, Tomi | Person |
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