Timeline for Questions regarding the detection of variants (SNPs and Indels) in mammal
Current License: CC BY-SA 4.0
9 events
| when toggle format | what | by | license | comment | |
|---|---|---|---|---|---|
| Apr 12, 2020 at 9:17 | answer | added | schmat_90 | timeline score: 1 | |
| Apr 11, 2020 at 23:01 | history | bumped | CommunityBot | This question has answers that may be good or bad; the system has marked it active so that they can be reviewed. | |
| Dec 13, 2019 at 23:01 | history | bumped | CommunityBot | This question has answers that may be good or bad; the system has marked it active so that they can be reviewed. | |
| Nov 15, 2019 at 17:37 | comment | added | Matteo Ferla | Yes, it's just an idea of a potential annotation. gnomAD is a very large DB of human variants and uses Ensembl ids, so, yes, a local blastp the camel protein canonical transcripts to the Ensembl fasta list of canonical transcripts and then the creation of a mapping function to see if the VCF would be pathogenic were it human or in a site also variable in humans. | |
| Nov 14, 2019 at 8:36 | comment | added | Mohamed Moawad | Do you mean blasting variants vcf file to the human genome? can you elaborate more? | |
| Nov 13, 2019 at 22:12 | answer | added | swbarnes2 | timeline score: 0 | |
| Nov 13, 2019 at 13:44 | comment | added | Matteo Ferla | One thing that could be highly beneficial to this perfectly reasonable pipeline is blasting against the human genome and seeing whether it is conserved, there are any gnomAD mutations or worse clinvar mutations —of particular interest are the pLI scores. We know a lot about humans, so why not take advantage of it. | |
| Nov 13, 2019 at 11:20 | review | First posts | |||
| Nov 13, 2019 at 14:09 | |||||
| Nov 13, 2019 at 11:15 | history | asked | Mohamed Moawad | CC BY-SA 4.0 |