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RARIFY: Rare allele analysis
RARIFY cross-references the client's genotype against a 62K SNP dataset from the human genome project which contains all alternative alleles which occur less than 1% of the time. If the client is either heterozygous or homozygous for the minor allele, RARIFY will display the results.
Getting around in RARIFY
From the 'Informatics' link on the main menu, hover over 'Queries' until a second menu list appears, then select RARIFY. You will be presented with the RARIFY screen, a simple scrollable window:
RARIFY data screen.
RARIFY displays the following row data:
- Chromosome location
- SNP ID
- Rare Allele
- Client Genotype Status
- Client Genotype
- GWAS Pathology Data (if available)
Most of the time these results will not be significant (these alleles are rare after all), but any SNP genotyped homozygous for a rare risk allele (especially if it is a SNP that may indicate a mitochondrial defect) should be investigated. Many of these SNPs have not been thoroughly studied. Click on the rs ID number to trigger an information popup on that SNP. If Opus 23 Pro has information on the SNP it will be displayed. If not, it will attempt to 'aggregate' information from a variety of sources.
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