Search results
Results from the WOW.Com Content Network
a) Various sources submit data, and each variation is assigned a unique submitted SNP number ID (ss#). b) dbSNP compiles identical ss# records into one reference SNP cluster (rs#) containing data from each ss#. c) Users can retrieve data for specific rs# records and analyze these variations. d) Data from dbSNP aids clinical and applied research.
SNPs are currently the marker of choice due to their large numbers in virtually all populations of individuals. The location of these biomarkers can be tremendously important in terms of predicting functional significance, genetic mapping and population genetics. [3] Each SNP represents a nucleotide change between two individuals at a defined ...
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.
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 ...
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.
For example, for the table_annovar.pl program, if the input file is VCF, then the output will also be a VCF file. If the input file is of the ANNOVAR input format type, then the output will be a TSV by default, with the option to output to CSV if the -csvout parameter is specified.
SNeP – Fast computation of LD and Ne for large genotype datasets in PLINK format. LDlink – A suite of web-based applications to easily and efficiently explore linkage disequilibrium in population subgroups. All population genotype data originates from Phase 3 of the 1000 Genomes Project and variant RS numbers are indexed based on dbSNP ...