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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.
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.
Directed graph of relationships among SNP prediction webservers and their bioinformatics sources. [2] Single nucleotide polymorphisms (SNPs) play an important role in genome wide association studies because they act as primary biomarkers. SNPs are currently the marker of choice due to their large numbers in virtually all populations of
The use of SNPs is being extended in the HapMap project, which aims to provide the minimal set of SNPs needed to genotype the human genome. SNPs can also provide a genetic fingerprint for use in identity testing. [1] The increase of interest in SNPs has been reflected by the furious development of a diverse range of SNP genotyping methods.
A SNP array can also be used to generate a virtual karyotype using software to determine the copy number of each SNP on the array and then align the SNPs in chromosomal order. [10] SNPs can also be used to study genetic abnormalities in cancer. For example, SNP arrays can be used to study loss of heterozygosity (LOH). LOH occurs when one allele ...
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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.
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