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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 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.
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%).
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 ...
dbSNP database: A repository of SNPs and other variants that have been reported after discovery, compiled and officially named. These are SNPs across the board. [81] [82] FINDbase: Repository of allele frequencies of pharmacogenetic markers in different populations [83] Pharmacogenomics Biomarkers in Drug Labelling
The SNP file format was used by Microsoft Access to store Report Snapshots in a single file which can be viewed and printed by the Microsoft Snapshot Viewer, a Windows program available free of charge from Microsoft that allows report output to be viewed without requiring Access. Support for the format was discontinued in Access 2010 and later ...