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The upper DNA molecule differs from the lower DNA molecule at a single base-pair location (a G/A polymorphism) In genetics and bioinformatics, a single-nucleotide polymorphism (SNP / s n ɪ p /; plural SNPs / s n ɪ p s /) is a germline substitution of a single nucleotide at a specific position in the genome.
Many tools available have been developed for SNP annotation in different organisms: some of them are optimized for use with organisms densely sampled for SNPs (such as humans), but there are currently few tools available that are species non-specific or support non-model organism data. The majority of SNP annotation tools provide ...
The calculation of prior probabilities depends on available data from the genome being studied, and the type of analysis being performed. For studies where good reference data containing frequencies of known mutations is available (for example, in studying human genome data), these known frequencies of genotypes in the population can be used to estimate priors.
A tag SNP is a representative single nucleotide polymorphism (SNP) in a region of the genome with high linkage disequilibrium that represents a group of SNPs called a haplotype. It is possible to identify genetic variation and association to phenotypes without genotyping every SNP in a chromosomal region.
An illustration of a Manhattan plot depicting several strongly associated risk loci. A Manhattan plot is a type of plot, usually used to display data with a large number of data-points, many of non-zero amplitude, and with a distribution of higher-magnitude values.
Nucleotide sequence analyses identify functional elements like protein binding sites, uncover genetic variations like SNPs, study gene expression patterns, and understand the genetic basis of traits. It helps to understand mechanisms that contribute to processes like replication and transcription. Some of the tasks involved are outlined below.
It can be described as a variation (which may arise due to mutation or alteration in the genomic loci) that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (single nucleotide polymorphism, SNP), or a long one, like minisatellites.
Pileup format is a text-based format for summarizing the base calls of aligned reads to a reference sequence. This format facilitates visual display of SNP/indel calling and alignment.