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fix: ensure FORMAT sample order is in-sync with header sample order #671

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merged 8 commits into from
Jan 21, 2025

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@tedil tedil commented Jan 21, 2025

Fixes #668

Summary by CodeRabbit

  • New Features

    • Enhanced output path management for VCF and TSV files
    • Improved pedigree information processing with more efficient sample name lookups
  • Refactor

    • Optimized handling of sample names in pedigree metadata
    • Updated code structure for better performance and readability
    • Minor formatting adjustments for improved clarity

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📥 Commits

Reviewing files that changed from the base of the PR and between 130197b and d623a72.

📒 Files selected for processing (4)
  • src/annotate/strucvars/mod.rs (6 hunks)
  • tests/data/annotate/strucvars/test.order.expected.vcf (1 hunks)
  • tests/data/annotate/strucvars/test.order.ped (1 hunks)
  • tests/data/annotate/strucvars/test.order.vcf (1 hunks)

Walkthrough

The changes in the src/annotate/strucvars/mod.rs file introduce modifications to how structural variant annotations are processed. A new output field of type PathOutput has been added to the Args struct, enabling more flexible output path management. The add_meta_pedigree function has been refactored to improve pedigree information handling by using a HashMap for more efficient sample name lookups and adding debug logging for unmatched samples.

Changes

File Change Summary
src/annotate/strucvars/mod.rs - Added output: PathOutput field to Args struct
- Modified add_meta_pedigree function to use HashMap for sample lookups
- Added std::collections::HashMap import

Assessment against linked issues

Objective Addressed Explanation
Maintain sample order in VCF/TSV output [#668] Unable to definitively confirm from code changes alone
Preserve correct data association with samples [#668] Code changes suggest potential improvements, but full verification requires testing

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🐰 A rabbit's tale of code so neat,
Structural variants now complete,
HashMap dancing, samples in line,
Efficiency blooms like springtime divine,
Mehari's magic, a coder's delight! 🧬


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Actionable comments posted: 1

🔭 Outside diff range comments (2)
src/annotate/strucvars/mod.rs (2)

Line range hint 363-368: Remove duplicate FORMAT field definition.

The FORMAT field "src" is defined twice with identical parameters. This is redundant and should be removed.

-                "src", // FIXME this is clearly the same format as above?!
-                Map::<Format>::new(
-                    FormatNumber::Count(1),
-                    Type::Integer,
-                    "Split-end variant support",
-                ),

Line range hint 2184-2190: Improve error handling in coordinate filling.

The function uses unwrap/expect which could be replaced with proper error handling and more descriptive messages.

-            .expect("chromosome not canonical");
+            .ok_or_else(|| anyhow::anyhow!("Chromosome {} is not in the canonical set", &tsv_record.chromosome))?;

-            .expect("Telomeric breakend not supported")
+            .ok_or_else(|| anyhow::anyhow!("Telomeric breakends are not supported in this implementation"))?
🧹 Nitpick comments (2)
src/annotate/strucvars/mod.rs (2)

429-443: Consider improving pedigree handling implementation.

The implementation could be enhanced in a few ways:

  1. The debug message could include more context about why the sample was skipped
  2. The HashMap conversion could be more concise using into_iter()
-        let individuals = pedigree
-            .individuals
-            .values()
-            .map(|i| (i.name.clone(), i))
-            .collect::<HashMap<_, _>>();
+        let individuals: HashMap<_, _> = pedigree.individuals.values().map(|i| (&i.name, i)).collect();

         for sample in header.sample_names() {
             let individual = individuals.get(sample);
             if individual.is_none() {
-                tracing::debug!("Sample {} not part of the pedigree, skipping.", sample);
+                tracing::debug!("Sample {} not found in pedigree definition, skipping sample.", sample);
                 continue;
             }

Line range hint 1201-1288: Add missing documentation for struct fields.

Several fields in the VarFishStrucvarTsvRecord struct lack documentation. Consider adding documentation for all fields to improve code maintainability.

Example for a few fields:

/// A record, as written out to a VarFish TSV file.
#[derive(Debug, Default, Serialize, Deserialize, Clone, PartialEq)]
pub struct VarFishStrucvarTsvRecord {
    /// The genome assembly/build.
    pub release: String,
    /// Chromosome name of start position.
    pub chromosome: String,
+    /// Numeric representation of the chromosome (1-22, X=23, Y=24, M=25)
    pub chromosome_no: u32,
+    /// UCSC bin for efficient interval queries
    pub bin: u32,
    // ... other fields
}
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Reviewing files that changed from the base of the PR and between 2f68ec5 and 50d9f4f.

📒 Files selected for processing (1)
  • src/annotate/strucvars/mod.rs (5 hunks)
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src/annotate/strucvars/mod.rs Outdated Show resolved Hide resolved
@tedil tedil requested a review from stolpeo January 21, 2025 15:41
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lgtm

@tedil tedil merged commit 1d3c230 into main Jan 21, 2025
9 checks passed
@tedil tedil deleted the 668-fix-sample-pedigree-order branch January 21, 2025 16:16
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annotate strucvars (re-)sorts sample names and changes association with correct data
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