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## Variant types | ||
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- Supported and existing in our current Beacon: `INS, DEL, SNP` | ||
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- Available from the datasets (although not used by the beacon): | ||
- in the SweGen dataset: `insertion, SNV, deletion, indel, sequence_alteration` | ||
- in the ACpop dataset: `insertion, SNV, deletion` | ||
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- What we don't have: `MNP, DUP, BND, INV, CNV, DUP:TANDEM, DEL:ME, INS:ME` | ||
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- What we don't know: | ||
- How do `indel` and `sequence_alteration` relate to the Beacon variant types? Do they require multiple tags (eg `indel => del + ins`)? | ||
`rs200774489` is annotated as `sequence_alteration`, but is an insertion according to https://www.ncbi.nlm.nih.gov/snp/rs200774489 | ||
- How to communicate which types the datasets support? | ||
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## Alternate bases | ||
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- Allowed: `(ATCGN)+`. Extra value in our data: `*`. | ||
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Should probably be expressed with `N` in the response (`*` is not allowed). | ||
- Example, as given in the Beacon response now: | ||
```"referenceName": "22", | ||
"start": "16060517", | ||
"referenceBases": "T", | ||
"alternateBases": "*", | ||
"variantType": "SNP" | ||
``` | ||
In the VCF, this variation is not annotated with `rsid` or `variantType` in the CSQ field. | ||
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From the VCF spec: | ||
> The ‘*’ allele is reserved to indicate that the allele is missing due to an overlapping deletion. | ||
Should rather be shown as (?): | ||
```"referenceName": "22", | ||
"start": "16060517", | ||
"referenceBases": "T", | ||
"alternateBases": "N", | ||
"variantType": "DEL" | ||
``` |