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feat: add hemizygous allele counts and freqs to protobuf (#511)
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tedil authored Sep 6, 2024
1 parent 57f4ff7 commit 9f4b08f
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8 changes: 8 additions & 0 deletions protos/annonars/gnomad/gnomad_sv2.proto
Original file line number Diff line number Diff line change
Expand Up @@ -126,6 +126,14 @@ message AlleleCounts {
float freq_het = 9;
// Homozygous alternate genotype frequency (biallelic sites only).
float freq_homalt = 10;
// Number of individuals with hemizygous reference genotypes (biallelic sites only)
int32 n_hemiref = 11;
// Number of individuals with hemizygous alternate genotypes (biallelic sites only)
int32 n_hemialt = 12;
// Hemizygous reference genotype frequency (biallelic sites only).
float freq_hemiref = 13;
// Hemizygous alternate genotype frequency (biallelic sites only).
float freq_hemialt = 14;
}

// Store the allele counts for the given sub cohort and sub cohort factored by sex.
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9 changes: 9 additions & 0 deletions src/gnomad_sv/cli/import/gnomad_sv2.rs
Original file line number Diff line number Diff line change
Expand Up @@ -263,10 +263,15 @@ impl Record {
let n_homref = get_i32(record, &key("N_HOMREF")).unwrap_or_default();
let n_het = get_i32(record, &key("N_HET")).unwrap_or_default();
let n_homalt = get_i32(record, &key("N_HOMALT")).unwrap_or_default();
let n_hemiref = get_i32(record, &key("N_HEMIREF")).unwrap_or_default();
let n_hemialt = get_i32(record, &key("N_HEMIALT")).unwrap_or_default();

let af = get_f32(record, &key("AF")).unwrap_or_default();
let freq_homref = get_f32(record, &key("FREQ_HOMREF")).unwrap_or_default();
let freq_het = get_f32(record, &key("FREQ_HET")).unwrap_or_default();
let freq_homalt = get_f32(record, &key("FREQ_HOMALT")).unwrap_or_default();
let freq_hemiref = get_f32(record, &key("FREQ_HEMIREF")).unwrap_or_default();
let freq_hemialt = get_f32(record, &key("FREQ_HEMIALT")).unwrap_or_default();

Ok(AlleleCounts {
ac,
Expand All @@ -279,6 +284,10 @@ impl Record {
freq_homref,
freq_het,
freq_homalt,
n_hemiref,
n_hemialt,
freq_hemiref,
freq_hemialt,
})
}

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