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
| Repute | Magnitude | Summary | Modification 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. | |
|---|---|---|---|---|
| Gs149 | 10 | Testing for orientation issues | 21 January 2020 04:23:01 | |
| Gs318 | Bad | 10 | Unsupported platform | 9 April 2018 06:33:46 |
| Gs300 | 7 | Data Quality issue. Your data provider is reporting heterozygosity on the Y chromosome. | 23 October 2016 09:50:25 | |
| Gs303 | 7 | WeGene quality control issues. | 8 June 2016 05:40:37 | |
| Gs306 | Bad | 6.5 | Poor metabolizer of fluoropyrimidines (e.g. 5-fluorouracil, capecitabine or tegafur). | 25 May 2017 00:56:35 |
| Gs314 | Bad | 6 | MUTYH-associated polyposis (and colon cancer risk) | 24 December 2017 19:56:29 |
| Gs216 | Bad | 6 | 2 copies of the APOE-ε4 allele | 5 December 2017 19:38:24 |
| Gs228 | Bad | 6 | Sickle cell affected | 3 June 2017 01:37:39 |
| Gs267 | 6 | APOE1/APOE1 | 5 November 2016 18:42:06 | |
| Gs312 | Bad | 5.5 | Intermediate metabolizer of fluoropyrimidines (such as 5-fluorouracil and capecitabine). | 25 May 2017 01:02:36 |
| ... further results | ||||
Most Recently Active
| Repute | Magnitude | Summary | Modification 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. | |
|---|---|---|---|---|
| Gs149 | 10 | Testing for orientation issues | 21 January 2020 04:23:01 | |
| Gs224 | Bad | 3 | Two copies of GCH1 variant associated with lower levels of tetrahydrobiopterin | 9 January 2020 19:26:09 |
| Gs310 | Good | 2.7 | Change in metabolism of certain substances | 7 January 2020 10:56:18 |
| Gs268 | Good | 4 | APOE E2/E2 | 5 November 2019 16:26:42 |
| Gs182 | 1 | CYP2D6*39 normal metabolism | 9 June 2019 03:26:29 | |
| Gs329 | Bad | 5.5 | ~6x higher risk for end-stage renal disease | 8 June 2019 18:27:45 |
| Gs311 | Bad | 2.7 | Slow metabolizer of Dichloroacetate (DCA) | 7 May 2019 01:26:25 |
| Gs237 | 3.1 | Blue eyes are more likely | 30 April 2019 16:20:26 | |
| Gs1000 | Bad | 3.5 | causes gout | 28 March 2019 17:33:38 |
| Gs186 | Bad | 1.5 | HLA-B*5801 heterozygosity is possible, unfortunately this is just too common to be useful | 24 March 2019 03:00:11 |
| ... 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.
