MobiDetails is an annotation platform for DNA variants. Users submit the variants they wish to annotate, the variant being linked to a gene.
To annotate a variant, either:
- go to your gene page e.g. using the search engine at the bottom of each page (HGNC names),
- then use the variant annotation form by clicking on the 'Run a new variant!' button (substitutions or small indels HGVS c. nomenclature)
- if the annotation retrieval from VariantValidator is successfull, a new link appears in the middle of the page,
- which will bring you to the annotation page. You're done!
Or use the search enging (see below).
For genes including multiple isoforms, you can select your isoform of interest. But beware, MobiDetails will in addition try to annotate on the canonical isoform (most likely the MANE isoform).
Once annotated, a variant will be stored in the system and you won't have to annotate it again.
You can also create an account (top right of all pages, icon ), which will allow you to quickly retrieve all the variants you annotated and all your favourite variants.
You can mark a variant as favourite in the variant page when you're logged in () by cliking on the star at the bottom of the left menu. You can retrieve your variants using the 'identity card' on the top right menu when you're logged in.
Registered users can in addition add an ACMG class to the variants and also contact each others via the application.
Search engine:
The search engine has two main functions:
- Retrieve pre-existing annotations - already added by users.
- by exact HGVS c. or p. (allowing variations), e.g. 'p.Arg34Ter', 'p.Arg34*', 'c.100C>T', 'c.100c>t'...
- by exact HGVS genomic nomenclature (hg19 or hg38), e.g. 'chr1:g.216595579G>A' or 'NC_000001.10:g.216595579G>A'
- a partial number match on HGVS c. or p. variant names, e.g. '229' would return all variants with 229 in c. name or p. name
- you can also use a decorator '%' with numbers to look for exact matches, e.g. '%2299' would return variants that contain 2299 in c. name or p. name, but not 22991, for example
- gene symbol, e.g. 'USH2A', including HGNC previous symbols and HGNC aliases
- dbSNP rs identifier, e.g. 'rs863225293'
- 1-216422237-G-A, pseudo VCF expression (default hg38), or hg19-1-216595579-G-A, hg38:1:216422237:G:A, separator being ':', '_' or '-'. Genome version supports GRCh37, GRCh38, hg19, hg38, case insensitive.
- the keyword 'last' will return all variants annotated during the last 7 days
- Annotate new variants using the following formats:
- NC_000001.11:g.216422237G>A;USH2A - e.g. strict HGVS genomic (hg38/hg19) + ';' + HGNC gene symbol
- NM_206933.2:c.100C>T or NM_206933.2(USH2A):c.100C>T
- rs772808534 (can take up to 30-40s)
- 1-216422237-G-A, pseudo VCF expression (default hg38), or hg19-1-216595579-G-A, hg38:1:216422237:G:A, separator being ':', '_' or '-'. Genome version supports GRCh37, GRCh38, hg19, hg38, case insensitive.
