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57c6a5f
feat(search): add gnomAD variant ID search
davereinhart Aug 5, 2026
879b390
feat(search): show which reference genome a gnomAD ID was read under
davereinhart Aug 5, 2026
ce6c02e
feat(search): add an "Any" search type that detects the identifier
davereinhart Aug 6, 2026
b87ae5f
feat(search): add a gene symbol search type
davereinhart Aug 6, 2026
0a9c0a7
fix(search): keep history sane around gene symbol searches
davereinhart Aug 6, 2026
278ef96
fix(search): navigate gene symbol examples straight to their gene page
davereinhart Aug 6, 2026
60c26ce
test(search): cover the search identifier logic
davereinhart Aug 6, 2026
4edb228
style(search): use the brand colour for the default search type
davereinhart Aug 7, 2026
c089d08
fix(search): report what a gnomAD reading actually did
davereinhart Aug 7, 2026
0085ad3
fix(router): start a new page at the top
davereinhart Aug 7, 2026
06fd8a7
Merge pull request #707 from VariantEffect/davereinhart/gnomad-id-search
davereinhart Aug 7, 2026
239b03e
Debug the dropdown menu of superseding score set shows private score …
EstelleDa Aug 10, 2026
d734276
Rename extractScoreSets to extractPublicScoreSets
EstelleDa Aug 11, 2026
fde9801
Merge pull request #709 from VariantEffect/buxfix/estelle/708/superse…
EstelleDa Aug 11, 2026
7126afa
refactor(ui): move error-response helpers into src/lib/errors
bencap Aug 5, 2026
2d9b4e8
feat(ui): add a shared CSV column picker driven by namespace discovery
bencap Aug 6, 2026
9277f0f
feat(ui): add a download indicator and fix annotation-stream memory use
bencap Aug 6, 2026
038957c
fix(score-set-downloads): label custom download button as CSV
bencap Aug 12, 2026
6c551b7
feat(variant): show gnomAD population frequency on the variant page
bencap Aug 10, 2026
36c43e5
feat(gnomad): remove ancestry from gnomad faf95 display
bencap Aug 11, 2026
9d0eba7
feat(ui): report annotation-stream variants the server could not anno…
bencap Aug 11, 2026
6d80c90
Merge pull request #713 from VariantEffect/chore/bencap/export-hardening
bencap Aug 12, 2026
04f9968
fix(variants): rename post_mapped_vrs_digest to post_mapped_vrs_id
bencap Aug 12, 2026
1cfa73a
chore(package-lock): bump minor package versions
bencap Aug 12, 2026
1b6e56c
chore: bump version to 2026.2.4.1
bencap Aug 12, 2026
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2 changes: 2 additions & 0 deletions docs/content/finding-data/external-integrations.md
Original file line number Diff line number Diff line change
Expand Up @@ -35,6 +35,8 @@ MaveDB displays ClinVar significance classifications and **star** status alongsi

Mapped variants in MaveDB are cross-referenced with the [gnomAD database](https://gnomad.broadinstitute.org/) to retrieve population allele frequency data. This integration provides context about the prevalence of variants in diverse human populations, which is an important factor in clinical variant interpretation alongside functional evidence.

A variant's frequency is displayed on its [variant page](../mavemd/variant-page.md), and is available in bulk through the `gnomad` namespace of the variant data download. Each frequency is matched by ClinGen allele ID, so it is a direct assertion about that variant rather than an aggregate over related variants. Variants absent from gnomAD show no frequency.

## Ensembl VEP

MaveDB uses the [Ensembl Variant Effect Predictor (VEP)](https://www.ensembl.org/info/docs/tools/vep/index.html) to annotate mapped variants with predicted functional consequences, including effects on protein coding sequences, splicing, and regulatory regions. These VEP annotations are displayed alongside variant effect scores on score set pages, providing additional context for interpreting the functional impact of each variant.
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11 changes: 11 additions & 0 deletions docs/content/mavemd/variant-page.md
Original file line number Diff line number Diff line change
Expand Up @@ -36,6 +36,17 @@ Each dataset on the variant page includes an [assay fact](../reference/assay-fac

For the full list of assay fact properties and their definitions, see the [assay facts reference](../reference/assay-facts.md).

## Annotations

Beneath the assay details, an annotations card gathers evidence about the variant itself, independent of any one assay. **Classification** reports the selected measurement's functional score, ACMG code, and OddsPath ratio.

**Population frequency** reports the variant's frequency in [gnomAD](../finding-data/external-integrations.md#gnomad), where it is present:

- **AF** -- The allele frequency, followed by the allele count and allele number it was computed from.
- **FAF95** -- The filtering allele frequency at 95% confidence, a conservative sampling-adjusted estimate, with the genetic ancestry group that attains it. A variant whose FAF95 exceeds a disease's maximum credible allele frequency is too common to be pathogenic (ACMG BA1/BS1).

The gnomAD release the frequencies were drawn from is shown alongside them, with a link to the variant's gnomAD page. Variants absent from gnomAD are reported as having no record rather than as having zero frequency.

## Interactive histogram

The variant page includes the same interactive score histogram shown on score set pages, but with the selected variant's position highlighted within the distribution. This visualization helps you see where the variant falls relative to all other measured variants in the assay.
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