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.
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 ...
This article incorporates public domain material from The Single Nucleotide Polymorphism database (dbSNP). National Center for Biotechnology Information . Template documentation [ view ] [ edit ] [ history ] [ purge ]
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.
In the field of genetic sequencing, genotyping by sequencing, also called GBS, is a method to discover single nucleotide polymorphisms (SNP) in order to perform genotyping studies, such as genome-wide association studies . [1] GBS uses restriction enzymes to reduce genome complexity and genotype multiple DNA samples. [2]
For each SNP, the combination of alleles a person has is called a genotype. Genotyping refers to uncovering what genotype a person has at a particular site. The HapMap project chose a sample of 269 individuals and selected several million well-defined SNPs, genotyped the individuals for these SNPs, and published the results. [6]
This process will produce a resultant VCF file, a tab-separated text file in a tabular like structure, containing genetic variants as rows. This file can then be used as input into the ANNOVAR software program for the variant annotation process, outputting interpretations of the variants identified from the upstream bioinformatics pipeline.
Technically the term SNP only refers to these kinds of variations, however in practice they are often used synonymously with SNV in the literature on variant calling. In addition, since the detection of germline SNVs requires determining the individual's genotype at each locus, the phrase "SNP genotyping" may also be used to refer to this process.