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Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.
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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
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Plos One, 2014
24637876 (PubMed )
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