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We describe a new computer program, SnpEff, for rapidly categorizing the effects of variants in genome sequences. Once a genome… Expand An extensive repertoire of modifications is known to underlie the versatile coding, structural and catalytic functions of RNA… Expand Mammalian microRNAs (miRNAs) pair to 3'UTRs of mRNAs to direct their posttranscriptional repression. Important for target… Expand We have systematically made a set of precisely defined, single‐gene deletions of all nonessential genes in Escherichia coli K‐12… Expand The GLIMMER system for microbial gene identification finds approximately 97-98% of all genes in a genome when compared with… Expand Hyperhomocysteinaemia has been identified as a risk factor for cerebrovascular, peripheral vascular and coronary heart disease1–4… Expand A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been… Expand Recent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and… Expand DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and… Expand The complete sequence of the 16,569-base pair human mitochondrial genome is presented. The genes for the 12S and 16S rRNAs, 22… Expand