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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.
Single nucleotide polymorphism annotation (SNP annotation) is the process of predicting the effect or function of an individual SNP using SNP annotation tools. In SNP annotation the biological information is extracted, collected and displayed in a clear form amenable to query.
A tag SNP is a representative single-nucleotide polymorphism in a region of the genome with high linkage disequilibrium (the non-random association of alleles at two or more loci). Tag SNPs are useful in whole-genome SNP association studies, in which hundreds of thousands of SNPs across the entire genome are genotyped.
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 ...
In the case of dbSNP identifiers, providing to the convert2annovar.pl script a list of identifiers (e.g. rs41534544, rs4308095, rs12345678) in a text file along with the reference genome of interest as a parameter, ANNOVAR will output an ANNOVAR input file with the genomic coordinate fields for those variants which can then be used for ...
If the SNP allele in the target DNA matches the normal DNA fragment, only identical homoduplexes will form during the reannealing step. If the target DNA contains a different SNP allele than the normal DNA fragment, heteroduplexes of the target DNA and normal DNA containing a mismatched polymorphic site will form in addition to homoduplexes.
Chronic Condition Special Needs Plans (C-SNPs) are Medicare plans for people with specific chronic conditions that are severe or disabling. Learn more here. What to know about a Medicare Chronic ...
The allele count of each measured SNP is evaluated—in this case with a chi-squared test—to identify variants associated with the trait in question. The numbers in this example are taken from a 2007 study of coronary artery disease (CAD) that showed that the individuals with the G-allele of SNP1 ( rs1333049 ) were overrepresented amongst CAD ...