Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Add note about grpmax #1290

Merged
merged 9 commits into from
Nov 16, 2023
Merged
Show file tree
Hide file tree
Changes from all commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
1 change: 1 addition & 0 deletions browser/help/helpPageTableOfContents.ts
Original file line number Diff line number Diff line change
Expand Up @@ -11,6 +11,7 @@ const helpPageTableOfContents: { topics: string[]; faq: FaqTopic[] } = {
'relatedness-filtering',
'vep',
'faf',
'grpmax',
'constraint',
'pext',
'regional-constraint',
Expand Down
10 changes: 2 additions & 8 deletions browser/help/topics/faf.md
Original file line number Diff line number Diff line change
Expand Up @@ -5,14 +5,8 @@ title: 'Filtering allele frequency'

This annotation can be used for filtering variants by allele frequency against a disease-specific threshold that can be set for each disease (e.g. BA1 in the 2015 ACMG/AMP guidelines). In this case the filtering allele frequency (FAF) is the maximum credible genetic ancestry group AF (e.g. the lower bound of the 95% confidence interval (CI)). If the FAF is above the disease-specific threshold, then the observed AC is not compatible with pathogenicity. See http://cardiodb.org/allelefrequencyapp/ and [Whiffin _et al._ 2017](https://www.nature.com/articles/gim201726) for additional information.

Note that this annotation contains filtering allele frequency information from the genetic ancestry group with the highest **FAF**, not the filtering allele frequency information calculated on the genetic ancestry group with the highest **AF**.
Note that the GroupMax FAF contains filtering allele frequency information from the genetic ancestry group with the highest **FAF**, not the filtering allele frequency information calculated on the genetic ancestry group with the highest **AF**.

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

"Note that this annotation contains filtering allele frequency information from the genetic ancestry group with the highest FAF"

We should clarify that this part is referring to the grpmax faf (or whatever we settled on for a name) and not just faf

Copy link
Contributor Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

will add a sentence -- let me know what you think

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

L8: "this annotation" -> " the GroupMax FAF"

The filtering allele frequency calculation only includes non-bottlenecked genetic ancestry groups: we did not calculate this metric on the Amish (`ami`), Ashkenazi Jewish (`asj`), European Finnish (`fin`), Middle Eastern (`mid`), and "Remaining Individuals" (`rmi`) groups.

On the browser, this annotation is directly available on the variant page. In the VCF and Hail Tables, this annotation (abbreviated "`faf`") is computed globally and for each genetic ancestry group. Filtering allele frequencies (FAFs) for each genetic ancestry group specific are listed separately with 95% and 99% CIs.

### <a name="grpmax"></a>Group maximum allele frequency

This annotation (abbreviated "`grpmax`") contains allele frequency information (AC, AN, AF, homozygote count) for the non-bottlenecked genetic ancestry groups with the highest **AF**.

For gnomAD v4, this calculation excludes Amish (`ami`), Ashkenazi Jewish (`asj`), European Finnish (`fin`), Middle Eastern (`mid`), and "Remaining Individuals" (`rmi`) groups. For gnomAD v2, this calculation excludes Ashkenazi Jewish (`asj`), European Finnish (`fin`), and "Remaining Individuals" (`rmi`) groups.
On the browser, the **GroupMax FAF** annotation is directly available on the variant page. In the VCF and Hail Tables, the filtering allele frequency annotation (abbreviated "`faf`") is computed globally and for each genetic ancestry group. Filtering allele frequencies (FAFs) for each genetic ancestry group are listed separately with 95% and 99% CIs.
8 changes: 8 additions & 0 deletions browser/help/topics/grpmax.md
Original file line number Diff line number Diff line change
@@ -0,0 +1,8 @@
---
id: grpmax
title: 'Group maximum allele frequency'
---

This annotation (abbreviated "`grpmax`") contains allele frequency information (AC, AN, AF, homozygote count) for the non-bottlenecked genetic ancestry groups with the highest **AF**. Note that `grpmax` is distinct from filtering allele frequency.

For gnomAD v4, this calculation excludes Amish (`ami`), Ashkenazi Jewish (`asj`), European Finnish (`fin`), Middle Eastern (`mid`), and "Remaining Individuals" (`rmi`) groups. For gnomAD v2, this calculation excludes Ashkenazi Jewish (`asj`), European Finnish (`fin`), and "Remaining Individuals" (`rmi`) groups.
20 changes: 20 additions & 0 deletions browser/src/help/__snapshots__/HelpPage.spec.tsx.snap
Original file line number Diff line number Diff line change
Expand Up @@ -688,6 +688,15 @@ exports[`Help Page has no unexpected changes 1`] = `
faf
</a>
</li>
<li>
<a
className="-Link c3"
href="/help/grpmax"
onClick={[Function]}
>
grpmax
</a>
</li>
<li>
<a
className="-Link c3"
Expand Down Expand Up @@ -943,6 +952,17 @@ exports[`Help Page has no unexpected changes 1`] = `
faf
</a>
</li>
<li
className="c10"
>
<a
className="-Link c3"
href="/help/grpmax"
onClick={[Function]}
>
grpmax
</a>
</li>
<li
className="c10"
>
Expand Down
Loading