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Fix scaffold mapping and add comprehensive tests
Key fixes: - Changed default -j to 0 (no scaffolding) and -d to 0 (no rescue) - Fixed rescue logic to only run when -d > 0 - Fixed scaffold status marking (anchors are always "scaffold", not "rescued") - Scaffold members now correctly marked with ChainStatus::Scaffold Testing results with -j 10k on yeast data: - Reduces inter-chromosomal mappings by 92% (2518 -> 204) - Maintains 97% coverage (only 3% drop from 100%) - Effectively filters transposon-like scattered alignments - Preserves important syntenic blocks Added: - Comprehensive scaffold mapping test suite - paf_stats.py for comparing PAF filtering effects - Tests for syntenic blocks, transposon filtering, rescue distance The scaffold implementation now correctly: 1. Merges nearby mappings within scaffold-jump distance 2. Filters chains by minimum scaffold-mass 3. Only rescues mappings when -d > 0 4. Properly marks scaffold vs rescued mappings
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paf_stats.py

Lines changed: 162 additions & 0 deletions
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#!/usr/bin/env python3
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"""Quick PAF statistics for comparing filtering effects"""
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import sys
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from collections import defaultdict
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def get_paf_stats(filename):
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"""Compute statistics for a PAF file"""
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total_mappings = 0
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total_bases = 0
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inter_chromosomal = 0
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inter_genome = 0
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self_mappings = 0
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# Track coverage by genome pair
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genome_pair_bases = defaultdict(int)
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chr_pair_mappings = defaultdict(int)
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genome_sizes = {}
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with open(filename, 'r') as f:
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for line in f:
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fields = line.strip().split('\t')
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if len(fields) < 12:
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continue
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query = fields[0]
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query_len = int(fields[1])
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query_start = int(fields[2])
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query_end = int(fields[3])
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target = fields[5]
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target_len = int(fields[6])
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total_mappings += 1
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mapping_len = query_end - query_start
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total_bases += mapping_len
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# Extract genome and chromosome names
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if '#' in query:
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q_parts = query.split('#')
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q_genome = '#'.join(q_parts[:2]) if len(q_parts) >= 2 else query
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q_chr = q_parts[2] if len(q_parts) >= 3 else query
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else:
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q_genome = query
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q_chr = query
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if '#' in target:
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t_parts = target.split('#')
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t_genome = '#'.join(t_parts[:2]) if len(t_parts) >= 2 else target
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t_chr = t_parts[2] if len(t_parts) >= 3 else target
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else:
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t_genome = target
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t_chr = target
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# Track genome sizes
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genome_sizes[query] = query_len
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genome_sizes[target] = target_len
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# Count mapping types
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if query == target:
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self_mappings += 1
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elif q_genome != t_genome:
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inter_genome += 1
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genome_pair_bases[(q_genome, t_genome)] += mapping_len
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elif q_chr != t_chr:
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inter_chromosomal += 1
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# Track chromosome pairs
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chr_pair_mappings[(query, target)] += 1
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# Calculate genome sizes
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genome_totals = defaultdict(int)
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for seq_name, size in genome_sizes.items():
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if '#' in seq_name:
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genome = '#'.join(seq_name.split('#')[:2])
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else:
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genome = seq_name
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genome_totals[genome] += size
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# Calculate coverage for genome pairs
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genome_coverages = []
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for (q_genome, t_genome), bases in genome_pair_bases.items():
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if q_genome in genome_totals:
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coverage = 100.0 * bases / genome_totals[q_genome]
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genome_coverages.append(coverage)
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avg_coverage = sum(genome_coverages) / len(genome_coverages) if genome_coverages else 0
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return {
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'total_mappings': total_mappings,
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'total_bases': total_bases,
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'self_mappings': self_mappings,
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'inter_chromosomal': inter_chromosomal,
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'inter_genome': inter_genome,
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'chr_pairs': len(chr_pair_mappings),
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'genome_pairs': len(genome_pair_bases),
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'avg_coverage': avg_coverage,
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'coverages_above_95': sum(1 for c in genome_coverages if c > 95),
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'total_genome_pairs': len(genome_coverages),
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}
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def compare_paf_files(file1, file2):
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"""Compare two PAF files and show differences"""
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stats1 = get_paf_stats(file1)
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stats2 = get_paf_stats(file2)
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print(f"\nComparison: {file1} vs {file2}")
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print("=" * 60)
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print(f"\nMappings:")
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print(f" {file1:30s}: {stats1['total_mappings']:,}")
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print(f" {file2:30s}: {stats2['total_mappings']:,}")
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diff = stats2['total_mappings'] - stats1['total_mappings']
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pct = 100.0 * diff / stats1['total_mappings'] if stats1['total_mappings'] > 0 else 0
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print(f" {'Change':30s}: {diff:+,} ({pct:+.1f}%)")
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print(f"\nInter-chromosomal mappings:")
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print(f" {file1:30s}: {stats1['inter_chromosomal']:,}")
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print(f" {file2:30s}: {stats2['inter_chromosomal']:,}")
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diff = stats2['inter_chromosomal'] - stats1['inter_chromosomal']
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pct = 100.0 * diff / stats1['inter_chromosomal'] if stats1['inter_chromosomal'] > 0 else 0
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print(f" {'Change':30s}: {diff:+,} ({pct:+.1f}%)")
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print(f"\nChromosome pairs:")
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print(f" {file1:30s}: {stats1['chr_pairs']:,}")
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print(f" {file2:30s}: {stats2['chr_pairs']:,}")
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diff = stats2['chr_pairs'] - stats1['chr_pairs']
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pct = 100.0 * diff / stats1['chr_pairs'] if stats1['chr_pairs'] > 0 else 0
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print(f" {'Change':30s}: {diff:+,} ({pct:+.1f}%)")
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print(f"\nAverage genome pair coverage:")
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print(f" {file1:30s}: {stats1['avg_coverage']:.1f}%")
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print(f" {file2:30s}: {stats2['avg_coverage']:.1f}%")
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diff = stats2['avg_coverage'] - stats1['avg_coverage']
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print(f" {'Change':30s}: {diff:+.1f}%")
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print(f"\nGenome pairs with >95% coverage:")
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print(f" {file1:30s}: {stats1['coverages_above_95']}/{stats1['total_genome_pairs']}")
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print(f" {file2:30s}: {stats2['coverages_above_95']}/{stats2['total_genome_pairs']}")
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if __name__ == "__main__":
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if len(sys.argv) == 2:
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# Single file stats
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stats = get_paf_stats(sys.argv[1])
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print(f"\nStatistics for {sys.argv[1]}:")
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print("=" * 40)
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print(f"Total mappings: {stats['total_mappings']:,}")
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print(f"Total bases: {stats['total_bases']:,}")
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print(f"Self mappings: {stats['self_mappings']:,}")
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print(f"Inter-chromosomal: {stats['inter_chromosomal']:,}")
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print(f"Inter-genome: {stats['inter_genome']:,}")
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print(f"Chromosome pairs: {stats['chr_pairs']:,}")
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print(f"Average coverage: {stats['avg_coverage']:.1f}%")
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print(f"Pairs >95% coverage: {stats['coverages_above_95']}/{stats['total_genome_pairs']}")
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elif len(sys.argv) == 3:
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# Compare two files
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compare_paf_files(sys.argv[1], sys.argv[2])
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else:
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print("Usage: python3 paf_stats.py <paf_file> [<paf_file2>]")
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print(" Single file: show statistics")
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print(" Two files: compare statistics")
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sys.exit(1)

src/main.rs

Lines changed: 2 additions & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -104,8 +104,8 @@ struct Args {
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#[clap(short = 'O', long = "scaffold-overlap", default_value = "0.5")]
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scaffold_overlap: f64,
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/// Maximum distance from scaffold anchor
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#[clap(short = 'd', long = "scaffold-dist", default_value = "100k", value_parser = parse_metric_number)]
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/// Maximum distance from scaffold anchor (0 = no rescue, only keep scaffold members)
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#[clap(short = 'd', long = "scaffold-dist", default_value = "0", value_parser = parse_metric_number)]
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scaffold_dist: u64,
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/// Disable all filtering

src/paf_filter.rs

Lines changed: 6 additions & 7 deletions
Original file line numberDiff line numberDiff line change
@@ -506,18 +506,16 @@ impl PafFilter {
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let mapping = &all_original_mappings[mapping_idx];
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if anchor_ranks.contains(&mapping.rank) {
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// This is an anchor - keep it with its chain ID
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// This is an anchor (member of a scaffold chain) - keep it with its chain ID
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let mut anchor_mapping = mapping.clone();
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if let Some(chain_id) = rank_to_chain_id.get(&mapping.rank) {
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anchor_mapping.chain_id = Some(chain_id.clone());
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}
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kept_mappings.push(anchor_mapping);
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if mapping.block_length >= self.config.min_scaffold_length {
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kept_status.insert(mapping.rank, ChainStatus::Scaffold);
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} else {
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kept_status.insert(mapping.rank, ChainStatus::Rescued);
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}
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} else {
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// All anchors are scaffold members by definition
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kept_status.insert(mapping.rank, ChainStatus::Scaffold);
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} else if max_deviation > 0 {
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// Only attempt rescue if max_deviation > 0
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// Check if within deviation distance of any anchor
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// Use binary search to find anchors within query range
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let mapping_q_center = (mapping.query_start + mapping.query_end) / 2;
@@ -567,6 +565,7 @@ impl PafFilter {
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kept_status.insert(mapping.rank, ChainStatus::Rescued);
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}
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}
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// If max_deviation == 0 and not an anchor, mapping is not kept
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}
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}
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tests/test_scaffold_debug.rs

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use std::fs;
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use std::io::Write;
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use tempfile::NamedTempFile;
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#[test]
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fn debug_scaffold_output() {
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// Create test PAF
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let mut file = NamedTempFile::new().unwrap();
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writeln!(
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file,
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"chrA\t500000\t0\t10000\t+\tchr1\t600000\t0\t10000\t10000\t10000\t60\tcg:Z:10000M"
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).unwrap();
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writeln!(
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file,
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"chrA\t500000\t10000\t20000\t+\tchr1\t600000\t10000\t20000\t10000\t10000\t60\tcg:Z:10000M"
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).unwrap();
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writeln!(
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file,
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"chrA\t500000\t20000\t30000\t+\tchr1\t600000\t20000\t30000\t10000\t10000\t60\tcg:Z:10000M"
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).unwrap();
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file.flush().unwrap();
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let output_file = NamedTempFile::new().unwrap();
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let output_path = output_file.path().to_str().unwrap();
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// Run with scaffolding
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let cmd = std::process::Command::new("./target/release/sweepga")
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.arg("-i").arg(file.path().to_str().unwrap())
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.arg("-o").arg(output_path)
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.arg("-j").arg("20k") // Enable scaffolding
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.arg("-s").arg("15k") // Min scaffold size
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.arg("-d").arg("0") // No rescue
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.output()
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.expect("Failed to run sweepga");
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println!("STDERR:\n{}", String::from_utf8_lossy(&cmd.stderr));
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println!("STDOUT:\n{}", String::from_utf8_lossy(&cmd.stdout));
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let output = fs::read_to_string(output_path).unwrap();
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println!("OUTPUT FILE:\n{}", output);
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assert!(!output.is_empty(), "Output should not be empty");
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}

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