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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.
dbSNP is a SNP database from the National Center for Biotechnology Information (NCBI). As of June 8, 2015, dbSNP listed 149,735,377 SNPs in humans. [56] [57] Kaviar [58] is a compendium of SNPs from multiple data sources including dbSNP. SNPedia is a wiki-style database supporting personal genome annotation, interpretation and analysis.
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 ...
Slider is an application for the Illumina Sequence Analyzer output that uses the "probability" files instead of the sequence files as an input for alignment to a reference sequence or a set of reference sequences. Yes Yes No No [53] [54] 2009-2010 SOAP, SOAP2, SOAP3, SOAP3-dp SOAP: robust with a small (1-3) number of gaps and mismatches.
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 ...
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 ...
It is a form of genotyping, which is the measurement of more general genetic variation. SNPs are one of the most common types of genetic variation. An SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is > 1%).