Semantic Scholar uses AI to extract papers important to this topic.
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole… Expand By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a… Expand We describe a new computer program, SnpEff, for rapidly categorizing the effects of variants in genome sequences. Once a genome… Expand A common mutation in methylenetetrahydrofolate reductase (MTHFR), C677T, results in a thermolabile variant with reduced activity… Expand In humans, glutathione-dependent conjugation of halomethanes is polymorphic, with 60% of the population classed as conjugators… Expand Simple sequence repeats (SSR), or microsatellites, are ubiquitous in eukaryotic genomes. Here we demonstrate the utility of… Expand Molecular genetic maps are commonly constructed by analyzing the segregation of restriction fragment length polymorphisms (RFLPs… Expand We developed mobility shift analysis of single-stranded DNAs on neutral polyacrylamide gel electrophoresis to detect DNA… Expand We have devised a simple and efficient cDNA cloning strategy that overcomes many of the difficulties encountered in obtaining… Expand We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping… Expand