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Genoset

From SNPedia

A genoset refers to a defined set of genotypes; we have coined the term to represent the combination of alleles at 2 or more loci, especially when they are not contiguous along a chromosome. Typically, these are then related to a medical (or ancestral) consequence that arises only when a particular combination of SNPs is inherited.

Promethease understands this criteria syntax.

More information about genosets can be found in the related SNPedia blog post. Note that genosets themselves are boolean, not quantitative; each genoset is either true (present) or false (absent) in an individual, based on the genoset's criteria, in the same way that a genotype (or allele) is either present or absent. Note that if a DNA microarray platform lacks a given SNP, genosets that require it (that SNP) will not return a result during a Promethease evaluation.

Most Significant

 ReputeMagnitudeSummaryModification date
"Modification date" is a predefined property that corresponds to the date of the last modification of a subject and is provided by Semantic MediaWiki.
Gs14910testing for orientation issues17 August 2015 21:57:17
Gs3037WeGene quality control issues.8 June 2016 05:40:37
Gs3007Data Quality issue. Your data provider is reporting heterozygosity on the Y chromosome.23 October 2016 09:50:25
Gs306Bad6.5Poor metabolizer of fluoropyrimidines (e.g. 5-fluorouracil, capecitabine or tegafur).25 May 2017 00:56:35
Gs228Bad6sickle cell affected25 October 2012 02:21:38
Gs2676APOE1/APOE15 November 2016 18:42:06
Gs216Bad62 copies of the APOE-ε4 allele8 May 2017 23:25:46
Gs312Bad5.5Intermediate metabolizer of fluoropyrimidines (such as 5-fluorouracil and capecitabine).25 May 2017 01:02:36
Gs308Bad5G6PD Deficiency likely based on detection of homozygous/hemizygous mutation(s).9 May 2017 02:21:14
Gs121Bad5DR3/4-DQ8 individual at high risk for type-1 diabetes21 October 2011 06:04:16
... further results


Most Recently Active

 ReputeMagnitudeSummaryModification date
"Modification date" is a predefined property that corresponds to the date of the last modification of a subject and is provided by Semantic MediaWiki.
Gs313Good2Normal DPYD activity and thus 5-FU metabolism predicted, since none of the three best described nonfunctional DPYD alleles were observed.25 May 2017 01:12:00
Gs312Bad5.5Intermediate metabolizer of fluoropyrimidines (such as 5-fluorouracil and capecitabine).25 May 2017 01:02:36
Gs306Bad6.5Poor metabolizer of fluoropyrimidines (e.g. 5-fluorouracil, capecitabine or tegafur).25 May 2017 00:56:35
Gs309Good0No abnormal G6PD variants detected in analyzed data.18 May 2017 00:39:03
Gs308Bad5G6PD Deficiency likely based on detection of homozygous/hemizygous mutation(s).9 May 2017 02:21:14
Gs307Bad3One or more G6PD deficiency-associated mutations detected in uploaded data.9 May 2017 02:20:08
Gs216Bad62 copies of the APOE-ε4 allele8 May 2017 23:25:46
Gs305Bad5Likely carrier of one PiS and one PiZ Alpha-1 Antitrypsin (SERPINA1) alleles; A1AT deficiency29 April 2017 17:17:29
Gs2321.7possible low pain sensitivity; LPS/LPS15 April 2017 02:33:34
Gs2331.7normal pain sensitivity; APS/APS, LPS/APS, and APS/HPS diplotypes15 April 2017 02:33:03
... further results


You can create a new genoset by clicking that link and filling in the form. But you'll still need to populate the criteria syntax.