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changeset 2:0170f93788b7 draft default tip

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planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/main/tools/happy commit 4abfaf634dcfed1dfce1bcf199c12acc33982ba4
author iuc
date Fri, 24 Oct 2025 13:26:58 +0000
parents 728bd4d000b0
children
files hap.py.xml test-data/hap_py_query.vcf.gz test-data/hap_py_query.vcf.gz.tbi test-data/hap_py_truth.vcf.gz test-data/hap_py_truth.vcf.gz.tbi test-data/happy.metrics.json test-data/happy.stats.csv test-data/reference.fasta test-data/reference.fasta.fai test-data/results.tsv
diffstat 10 files changed, 244 insertions(+), 38 deletions(-) [+]
line wrap: on
line diff
--- a/hap.py.xml	Thu Jan 27 17:06:42 2022 +0000
+++ b/hap.py.xml	Fri Oct 24 13:26:58 2025 +0000
@@ -1,17 +1,18 @@
-<tool id="som.py" name="som.py" version="@TOOL_VERSION@+galaxy@VERSION_SUFFIX@" profile="21.09">
-    <description>A tool to perform comparisons only based on chromosome, position, and allele identity for comparison of somatic callsets.</description>
-
+<tool id="som.py" name="som.py and hap.py" version="@TOOL_VERSION@+galaxy@VERSION_SUFFIX@" profile="@PROFILE@">
+    <description>Comparison of somatic callsets based only on chromosome, position, and allele identity</description>
     <macros>
-        <token name="@TOOL_VERSION@">0.3.14</token>
+        <token name="@TOOL_VERSION@">0.3.15</token>
+        <token name="@PROFILE@">24.1</token>
         <token name="@VERSION_SUFFIX@">0</token>
     </macros>
-
+    <xrefs>
+        <xref type="bio.tools">hap.py</xref>
+    </xrefs>
     <requirements>
         <requirement type="package" version="@TOOL_VERSION@">hap.py</requirement>
     </requirements>
-
+    <version_command>som.py -h</version_command>
     <command detect_errors="exit_code"><![CDATA[
-
 #if $reference_genome.source == 'history':
     #set $ref_genome = 'reference.fasta'
     ln -s -f '${reference_genome.history_item}' $ref_genome;
@@ -20,15 +21,23 @@
     #set $ref_genome = $reference_genome.index.fields.path
 #end if
     export HGREF='$ref_genome' &&
-    som.py
-    '$truth'
-    '$query'
-    -r '$ref_genome'
-    -o 'happy' | sed 's/\s\+/\t/g' | tail -n+2> results.tsv
+    #if $program_select == 'som.py':
+        som.py
+    #else:
+        hap.py
+    #end if
+        '$truth'
+        '$query'
+        -r '$ref_genome'
+        -o output
+        | sed 's/\s\+/\t/g' | tail -n+2 > results.tsv
     ]]>
     </command>
-
     <inputs>
+        <param name="program_select" type="select" label="Comparison method" help="Select the comparison method to use.">
+            <option value="som.py">som.py: Genotype-level comparison</option>
+            <option value="hap.py">hap.py: Allele-based comparison (chromosome, position, allele)</option>
+        </param>
         <conditional name="reference_genome">
             <param name="source" type="select" label="Source for the reference genome" help="Built-in references were created using default options.">
                 <option value="indexed" selected="true">Use a built-in genome</option>
@@ -37,40 +46,119 @@
             <when value="indexed">
                 <param name="index" type="select" label="Select a reference genome" help="If your genome of interest is not listed, contact the Galaxy team.">
                     <options from_data_table="fasta_indexes">
-                        <filter type="sort_by" column="2" />
-                        <validator type="no_options" message="No genomes are available for the selected input dataset" />
+                        <filter type="sort_by" column="2"/>
+                        <validator type="no_options" message="No genomes are available for the selected input dataset"/>
                     </options>
                 </param>
             </when>
             <when value="history">
-                <param name="history_item" type="data" format="fasta" label="Reference genome" help="A reference genome in FASTA format" />
+                <param name="history_item" type="data" format="fasta" label="Reference genome" help="A reference genome in FASTA format"/>
             </when>
         </conditional>
         <param name="truth" type="data" format="vcf" label="ground truth variant calls"/>
         <param name="query" type="data" format="vcf" label="query variant calls"/>
     </inputs>
-
     <outputs>
         <data name="results" label="${tool.name} on ${on_string}" format="tabular" from_work_dir="results.tsv"/>
-        <data name="stats" label="${tool.name} on ${on_string}: stats" format="csv" from_work_dir="happy.stats.csv" />
-        <data name="metrics" label="${tool.name} on ${on_string}: metrics" format="json" from_work_dir="happy.metrics.json"/>
+        <data name="sompy_metrics" label="${tool.name} on ${on_string}: som.py metrics" format="json" from_work_dir="output.metrics.json">
+            <filter>'som.py' in program_select </filter>
+        </data>
+        <data name="happy_metrics" label="${tool.name} on ${on_string}: hap.py metrics" format="json" from_work_dir="output.metrics.json.gz">
+            <filter>'hap.py' in program_select </filter>
+        </data>
+        <data name="stats" label="${tool.name} on ${on_string}: som.py comparison stats" format="csv" from_work_dir="output.stats.csv">
+            <filter>'som.py' in program_select </filter>
+        </data>
+        <data name="summary" label="${tool.name} on ${on_string}: hap.py summary" format="csv" from_work_dir="output.summary.csv">
+            <filter>'hap.py' in program_select </filter>
+        </data>
     </outputs>
-
     <tests>
+        <!-- Testing som.py -->
         <test expect_num_outputs="3">
-            <param name="source" value="history"/>
-            <param name="history_item" value="chr21.fa"/>
+            <param name="program_select" value="som.py"/>
+            <conditional name="reference_genome">
+                <param name="source" value="history"/>
+                <param name="history_item" value="chr21.fa"/>
+            </conditional>
             <param name="truth" value="small_NA12878-Freebayes-chr21.vcf"/>
             <param name="query" value="small_NA12878-GATK3-chr21.vcf"/>
-
-            <output name="results" file="results.tsv"/>
-            <output name="stats" file="happy.stats.csv" compare="sim_size" delta_frac="0.3" />
-            <output name="metrics" file="happy.metrics.json" compare="sim_size" delta_frac="0.3" />
+            <output name="results">
+                <assert_contents>
+                    <has_text text="records"/>
+                    <has_n_lines n="4"/>
+                </assert_contents>
+            </output>
+            <output name="stats">
+                <assert_contents>
+                    <has_line_matching expression="^0,indels,1,1,0,1.*"/>
+                    <has_text text="som.py-"/>
+                </assert_contents>
+            </output>
+            <output name="sompy_metrics">
+                <assert_contents>
+                    <has_json_property_with_text property="name" text="som.py.comparison"/>
+                    <has_text text="som.py.comparison"/>
+                </assert_contents>
+            </output>
+        </test>
+        <!-- Testing hap.py -->
+        <test expect_num_outputs="3">
+            <param name="program_select" value="hap.py"/>
+            <conditional name="reference_genome">
+                <param name="source" value="history"/>
+                <param name="history_item" value="reference.fasta"/>
+            </conditional>
+            <param name="truth" value="hap_py_truth.vcf.gz"/>
+            <param name="query" value="hap_py_query.vcf.gz"/>
+            <output name="results">
+                <assert_contents>
+                    <has_n_lines n="6"/>
+                </assert_contents>
+            </output>
+            <output name="summary">
+                <assert_contents>
+                    <has_n_lines n="5"/>
+                    <has_text text="SNP,PASS,5,4,1,6,2,0,0,0,0.8,0.666667,0.0,0.727273,0.25,0.5,0.0,0.0"/>
+                </assert_contents>
+            </output>
+            <output name="happy_metrics" decompress="true">
+                <assert_contents>
+                    <has_json_property_with_text property="name" text="hap.py.comparison"/>
+                    <has_text text="hap.py.comparison"/>
+                </assert_contents>
+            </output>
         </test>
     </tests>
+    <help format="markdown"><![CDATA[
 
-    <help><![CDATA[
-        som.py is a tool to perform comparisons only based on chromosome, position, and allele identity. This comparison will not resolve haplotypes and only verify that the same alleles were observed at the same positions (e.g. for comparison of somatic callsets).
+## What this tool does
+**hap.py** compares variant callsets (VCFs) against a reference “truth” set to evaluate variant calling accuracy. It performs haplotype-aware comparisons, matching variants by local sequence context rather than simple record alignment. This enables accurate benchmarking even when complex or multi-nucleotide variants are represented differently.
+---
+
+## Inputs
+- **Truth VCF:** High-confidence reference variants.  
+- **Query VCF:** Variants to evaluate.  
+- **Reference FASTA:** Genome reference used for both callsets.  
+---
+
+## Outputs
+- **Summary CSV / JSON:** Precision, recall, and F1 metrics.  
+- **ROC and stratified metrics:** Optional, for detailed performance breakdowns.  
+- **Annotated VCFs:** Optional lists of matched and unmatched variants.
+---
+
+## Notes
+- Use **hap.py** for haplotype-level benchmarking.  
+- Use **som.py** for simpler allele-based comparisons (chromosome, position, allele).  
     ]]></help>
-
+    <citations>
+        <citation type="bibtex">@misc{illumina_happy,
+  title        = {hap.py},
+  author       = {{Illumina}},
+  year         = {2021},
+  howpublished = {\url{https://github.com/Illumina/hap.py}},
+  note         = {Accessed: 2025-10-19}
+}</citation>
+    </citations>
 </tool>
Binary file test-data/hap_py_query.vcf.gz has changed
Binary file test-data/hap_py_query.vcf.gz.tbi has changed
Binary file test-data/hap_py_truth.vcf.gz has changed
Binary file test-data/hap_py_truth.vcf.gz.tbi has changed
--- a/test-data/happy.metrics.json	Thu Jan 27 17:06:42 2022 +0000
+++ /dev/null	Thu Jan 01 00:00:00 1970 +0000
@@ -1,1 +0,0 @@
-{"runInfo": [{"value": "/usr/local/bin/som.py test-data/small_NA12878-Freebayes-chr21.vcf test-data/small_NA12878-GATK3-chr21.vcf -r test-data/chr21.fa -o happy", "key": "commandline"}], "metrics": [{"data": [{"values": [0, 1, 5], "type": "string", "id": "types", "label": "types"}, {"values": ["indels", "SNVs", "records"], "type": "string", "id": "type", "label": "type"}, {"values": [1, 4, 4], "type": "int64", "id": "total.truth", "label": "total.truth"}, {"values": [1, 3, 4], "type": "int64", "id": "total.query", "label": "total.query"}, {"values": [0, 0, 0], "type": "int64", "id": "tp", "label": "tp"}, {"values": [1, 3, 4], "type": "int64", "id": "fp", "label": "fp"}, {"values": [1, 4, 4], "type": "int64", "id": "fn", "label": "fn"}, {"values": [0, 0, 0], "type": "int64", "id": "unk", "label": "unk"}, {"values": [0, 0, 0], "type": "int64", "id": "ambi", "label": "ambi"}, {"values": [0.0, 0.0, 0.0], "type": "double", "id": "recall", "label": "recall"}, {"values": [0.0, 0.0, 0.0], "type": "double", "id": "recall_lower", "label": "recall_lower"}, {"values": [0.975, 0.6023646356164746, 0.6023646356164746], "type": "double", "id": "recall_upper", "label": "recall_upper"}, {"values": [0.0, 0.0, 0.0], "type": "double", "id": "recall2", "label": "recall2"}, {"values": [0.0, 0.0, 0.0], "type": "double", "id": "precision", "label": "precision"}, {"values": [0.0, 0.0, 0.0], "type": "double", "id": "precision_lower", "label": "precision_lower"}, {"values": [0.975, 0.7075982261787133, 0.6023646356164746], "type": "double", "id": "precision_upper", "label": "precision_upper"}, {"values": [0.0, 0.0, 0.0], "type": "double", "id": "na", "label": "na"}, {"values": [0.0, 0.0, 0.0], "type": "double", "id": "ambiguous", "label": "ambiguous"}, {"values": [49950, 49950, 49950], "type": "int64", "id": "fp.region.size", "label": "fp.region.size"}, {"values": [20.02002002002002, 60.06006006006006, 80.08008008008008], "type": "double", "id": "fp.rate", "label": "fp.rate"}], "properties": [], "type": "Table", "id": "result", "label": "result"}], "version": "", "sampleInfo": [], "name": "som.py.comparison", "parameters": [], "timestamp": "Fri Jan 21 11:08:26 2022", "metadata": {"required": {"version": "", "id": "haplotypes", "module": "som.py", "description": "/usr/local/bin/som.py generated this JSON file via command line /usr/local/bin/som.py test-data/small_NA12878-Freebayes-chr21.vcf test-data/small_NA12878-GATK3-chr21.vcf -r test-data/chr21.fa -o happy"}}}
\ No newline at end of file
--- a/test-data/happy.stats.csv	Thu Jan 27 17:06:42 2022 +0000
+++ /dev/null	Thu Jan 01 00:00:00 1970 +0000
@@ -1,4 +0,0 @@
-,type,total.truth,total.query,tp,fp,fn,unk,ambi,recall,recall_lower,recall_upper,recall2,precision,precision_lower,precision_upper,na,ambiguous,fp.region.size,fp.rate,sompyversion,sompycmd
-0,indels,1,1,0,1,1,0,0,0.0,0.0,0.975,0.0,0.0,0.0,0.975,0.0,0.0,49950,20.02002002002002,som.py-,/usr/local/bin/som.py test-data/small_NA12878-Freebayes-chr21.vcf test-data/small_NA12878-GATK3-chr21.vcf -r test-data/chr21.fa -o happy
-1,SNVs,4,3,0,3,4,0,0,0.0,0.0,0.6023646356164746,0.0,0.0,0.0,0.7075982261787133,0.0,0.0,49950,60.06006006006006,som.py-,/usr/local/bin/som.py test-data/small_NA12878-Freebayes-chr21.vcf test-data/small_NA12878-GATK3-chr21.vcf -r test-data/chr21.fa -o happy
-5,records,4,4,0,4,4,0,0,0.0,0.0,0.6023646356164746,0.0,0.0,0.0,0.6023646356164746,0.0,0.0,49950,80.08008008008008,som.py-,/usr/local/bin/som.py test-data/small_NA12878-Freebayes-chr21.vcf test-data/small_NA12878-GATK3-chr21.vcf -r test-data/chr21.fa -o happy
--- /dev/null	Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/reference.fasta	Fri Oct 24 13:26:58 2025 +0000
@@ -0,0 +1,126 @@
+>chr1
+GACAGGTACAAGAAGGAGTATGCATCAATGTGGTCGTGTGGAACAAACGCCACTGGAGACTGGGTTAACCATTCGCTCCA
+GCGTCATGAAAGTCACTGTTAGGGCGACCTTCGATTCGGATGTGACATTTCATTACATTACGCTCAGGACTGCGAACGAA
+AGATTAAGAATGCTTAACCCGGTACCTAACCCATCTGATTTTTACACACTCTCCTTGGACTGGGAGGTATAAGGAATAGG
+CGGTAGACGCCTACTTAACTTTCATGGTGATCGTAAAGCGGAGCCTTACCATGCGGCAATTGTGAACTTTTAAATTCGAT
+TTTTAGCTTTTCTATTATCCTAAACTTCGCTGTATATCACGCGGCGCGATGGGGCAGCCTGCCCCCACTGTGCGACCGGC
+CACTTAAGGCTTGAAAACTACGAGCAGATTACATGAATCTGTGTTGGGTGTGCCAGTGGCACCCGAAGGACGCACTGGTT
+CACTTTCGGGAACACGCACAGACGAGACACACTCTTCAAGTCGTGTTAAAAGGAGTAGGATTAACGTCGAGGATTGATTC
+CCGCTTATGTGCGTCTGCCGCTTATACGCATAATCTGCATAGCTGGCTAAGCGCGCGCGCCAAAGTAACGTGCAAAAAGC
+TGGATCTGCCAATCTCAGAAGCTATGTAGCCTTCGGGTAAGAAAACGCAGGCGTTGGTCGGTTAACGGCAGGTGCAACCC
+ATTGTTGCATCGTAGGCACCGTCGCTTGCCCTCGTGGCACTGTAGTCGATGAAGGATTCATCGGCTTAGCTGTTCTCTGT
+CCGTCAGCGGCCAGGATAGGTCGTTCAGGTTCGCGCGACTCGGTTTCCGTTAAGTTGCAGTCGTATCCAGGTAATGATAC
+CCATTGACCGGCCTACCAGGTCTGCGGGAGCTCTGCGGGGGTGTGCCGGACGAAGTGTTCTCTGCATATTGTTTCTAGCG
+GGTTAAATGTAATTCCATCCATACGGTCGACACCTACCTTAGGTCCAATCGGGATAAGATAATCATATAACAGAATACAA
+GGGCTGAGTATTGCTACCGCTAAGACGGCTGCGAGTGTGACACCCACGCATATAAGTGGGCACGTTGTGCGAGAATCTGT
+TTTGGATTCAGCCATGCAGAGACCCGTGAAAGGCGCCCTACCGCGACGACAACCAGACGGTTATAATTGGGCAACTGTTA
+TAGGCCCCAGAGTCGTTAAAGTGATCTTCTGGGTGAACCCAGCCATATTGGCGTTCTGCCAAATCGGAACCGACCCCGTG
+AAGCGGTTCGACTGCGTCCTTGTGGGGCCCAATCAAATATTTACTACATTTACCGACCGCGCTCTCTTCCCGTTTACGTG
+ATTCTCTACTACCAAGATCATTGTACTGAGCAACTGGGACCACTCATGAGAACGACGATAGGTGCCGTCATCGGTGCAGT
+ATCGGTATCCAAATGTGCTACTTCACTGTCTCCTGTGAGTGCAGCGCGCATCTCTTAGCTGTAGTAATCCGGGTCTGGCG
+AAGCCGCCCTCTCATCTCAGTCCAGTTGTGTGAAATAGCTGGACTGGTTATGCGCTTGATCTAAAACGCTTTCGGACGGA
+TAGGGTGTAAGGGTCGCGCTCTGCAACCAGCGGTTACGCCCAACCGATACGCTCGCCATGTACACTGCGTCTGTCCGAGA
+GTCTGATCTCTTAGGAACCCGGCGATGCCTGGCTCGTGTGGACTTTGGGAGGTAGATAACAGCTTTGAAACGGCATCCTG
+GGGAAGATCCAGCCTTCAGCTTTTCCGCCCCAGTGAGGAGGGACGATAGTCTTCATCGTAGGGTTATATTCCTTTTAGAT
+CTGCTTCAAACCAGTGTATTTGAGAACACATTCGAGGAACCGTGCATCGAAAGGCGCGGAATTACGAGAGGGACGAAGAG
+TCGCACTGCTGGACATTATACTTTGCTCTTCGGGGCAGGGAAACGGGTACCTGATCTTAAAAGGAGCAATAGCTGCGGCC
+AGACATTTGCCTTGTCCACTCTCGTTGTGAAAGTTAGACGGTATGGCTCTATTATCAGATGTCGCCGCATCTTCCGAACT
+GCACCTCGGCTTGCATAGCTGGAATTGTCTAGAGCGGGCCAGAGCTATGTTAAAAGTCCCCGTAGTGTTACGAAACCTGT
+AGAATTCAATTGATCTGTGCAAATCTCTATGGTACTCTTCTACTCCTCGGAGTGAAGGGCAACCCAACGCACAGCCCCAT
+TTGACACCACCCACAGGAACTCGTCCTTTACTACTTCGCGACTCAGGGGGTCGCCGTTCCGAGGTATCCGTGGTCTGGAT
+GCGATGCTTCACGGGGCCTGGCAACTATACCACCCGCCTATGGATAAAGTACAGCAGAGCGATTAATACCCTGGGGGCTG
+TGCGAAACAGGCACAGGGTGCACCACAATTGCGCTCAATCCGACGTGAATTCTAGGTATTCTCCTCTTATGCGGAAAAAC
+CGCGCCTTGATTTTTATAGTTGCGCCCGTAGCTCTCATGGCGCAGACACTCGGCCGAATCATCATAGAGATCGCCTACCG
+AGGACAAGAGTTCAACGACTATTATAGAGCGGACGTAATGCTCACAGGGTGTGCGGGCATTCACGGTTTATGCGTTTAAC
+AATGGGCGAGGCCGATGCGTGAGGTAACCGCGGAGGATGTGAATCTTATCAGGACCCGCCAGGAGATACCATTGTGCCCG
+CACGTATTTACCTCGAAGCGCGCTATTAACACTTTAGTGAGACATGATTGGCTAAATAGCTACCTGGCCAATGAACCGTA
+CCAAGTGATCAACGGCTACCGACTAATTATCGGGCTAATCATTCACAGTCAGAAACTAGACCGACAATGGTTTTCGCTGC
+ACATTATGTTTAGCTTATATTCTTAGTGTAGTGGATTCCCAAAGATAAGTTCAGTTTTTCTCACAATTTGATGTTAGACG
+AGTTCTTAGTTAGTAGATATAGGTCCAACAACGTTCCGACTGGAATCCTAACGGTAGGCATATAAAAGGGCCAAGTACCC
+GGAAACATCCCGAGATCCCCACATGACGTGGTTCGTCTCATGGTTGGATATTTACTCTGTCTTACCCCCTTGGCCAGTTT
+GACGCCCCGACAGGATCAGTTATCCCGATATCTCCGAATGTTTGACGATTAATTACTGCTGGAACGATGCATGGCCAGTT
+GGCCATTATGGACTCTGCCCCCGTCAGGTCGGCAATGTCGTCATTTTGGGGGTCCCAGGAGAGTTGGTTTAAACTTAGCA
+CGCTCCCTCTGTATGTCCATAACGTCCGTCGAGACTATCTAGGCTCAACACTAGGAGCACGATCCGGCTTCTCATTCAGA
+GGACGATCGATGGAGCCGCAGGCGGCGATAGAAAAACGAGCACATCAGTTGAAGGACATCCAAACTCGATATGACCGTAT
+ACTCCTTGTAGATACGTGACCAGTTATACACCGGTGGTGCGGAGACGCTGTAGATTTACATAAGCACTCTCACGACGAAG
+GCGAGTCAACGGCGGATACTTCGGAAAGGAGATCCTGACTTGTCGTACGATTCGTAGGACGTGCTTTCTTCACGGCGTGT
+GAGCCGTGTGGCACCGGCGTCTTGAAGATACCTGCTATATGTGGATTCGTCTTCGACGTTTTGGTGGTTCAGAAGCCGAG
+CCGAACATGGCGCTCAAAGCGAAACCATGTTTAGCTGGTGCTTCGCTTCTCATAGTATGAAGTTCAGGTTGTGACCAATG
+GACCGCAGGGGTGGATATCATCCGCGACTGTAGTTGCTGGAAGGTCGTCCGGAATAATTTTTCGCAAGCCAGAGTCCGCG
+GCCCAAAGCTAGTCCCGAGTTAGCTAAAGAGCGTGGTCTCATGCCGCGGTTGAGCATGTGCCACACAATCCCATCGGTTC
+GAGCGTGCTGCTCCGGAAAGAACGAATGCCAATAAGAGAGACATGGAGGCACTTATGTTAGCGCCGACAATGCAACGATG
+ACAGTTTGGCAGATTCGGTGAACATCTCAGTGAAGGCCAGCTCCCGTCTCCGCCCGGTGGCGAACCGGGATAAATCAAAA
+CTGGGGTTGCAGTCAGGAAAAAATTCCGGGAACTTCTCGATGCCAACTTTTTGGTGTTTCCGAAAGTGACTGATAAGTAT
+CCTCTGTCAGTAAAGAATGGGTGACGCTTTCTTCAGATCGGCGATGCGAAGCGCGACGCCAGCTCAAGAACACCATATAC
+TTGGTCGGCGATCGCCCGTCAATTAGGATCGCGTCCGAATCGGTAAACCCGCCTCGTCAAGGTGAAAATGACTACAGTCA
+CGATAGTCCTGCCTGAGGGGGGCCGTCCCCATTCCATTCACCAACCGCAGCCCCATTTGCGTCTACGGCGAAAGAACGGA
+ACCCTTCTCTTATACATTTATATCGACTGTCGCCGATGCGATTAAGCACATAATCGCAAAGTTGAGGTAATTTTCAGCAT
+CCCGAACGCTTGAACCCAGCAATTAGGGCGCGGCGAGATATACAGTGGGCCGATACTATAGTCCGTCAACTTAGGAGAGA
+GCAGCCGTAACCATCCCTCCTCGGGATTCTCCGTGGTCCATATGCGGTAACACGATACTGGTATGGTGCGGAATCTCTTA
+GGATCCAGAGAAGCCGGACCAAGACAGTAAGCGAGGAATCTAGCCCGACTGTCAATACTTAATTTTAGACAAGAGCCGAG
+AGGAACTGAGACCTGTATGACTACTGAGCTAAGCCACCGATGTGTTTAGCATGACTGGAAATTCGAAGTTCGGATTATTC
+GTACTGTTCCCTTTCTAATGCGAAGCGCGGGCTCAAATACCGTTATTTCCCACAGCCGGGGTTGCTATGCGGGGACCCTC
+CGAGATCGATTGACCAGGACCGTTGAACCGCTGTCCTTGGATAGCCTCGAAAGCCTGATAGCCAGAGGGTAAGATGTCTA
+CAGGGGTACGTACCCACGCAGCGGGGAGGTCGTTCGCGTCAGGGCAGGTAAGATTTCCGGAACTCGCAGCGGAACCGTTG
+CGTGCTCGTCGCGAGTTCTCATGTGCGTTGCACCACTACATTTCACGATGGTATTTGAGCGGATGGACAGGCGCTCACCC
+AACAGGACCAGCAAGCCACGAACAGGTGGCTGGGTTCATTCCGGCAATGTCGGTTCACCCATGAATTCGTGCCGGTCCTG
+TCTGAGATGCGCGTATAATTCCGATTTGAAAGCGAGCGTCTCTCAATCACCGAGTCTTAGCCCCGGCACTTATGAAAGCC
+TAGCCTGCAGGCCAGGTAGCGCTGGACGAGTTTCATACGTAGTCACTCGCGCTTCATGGGACAATTGCAGTCACTAAAGA
+CTCGCTTCAATACTTACGAGCGTAACCGTGCGCATATCGTGATGTCTTCCAGCTGGGACGAGGTAAACACAAATGTTGGA
+TAGTGTTGCCTGTCCTTCAATCCATCCCTGACATAGTGAAGCCTAGTGCGTGGTCCTTTGATTCGTCGCGTAGTACTGAA
+CAGTGCAGGAAGGCAGCGTCTAATAATGCGTAGTAAGCTAGAAACTCAGTACTATCTTGCTGATTTGCAACGGCTAATGT
+ACAAAGTCTTGAGGCTGAACTGTCAAAGACTGATGCATGTCAGAGCCCTTAGTATCATGGCAGCTCAGTCACCTATCCAG
+GTAAGAATCACTGTGGATTATCTGTCGGACGTGAGATACTAGCTTCAGAGTACGACCGTGACTTCTCCGTATCACCTGTT
+ATGATGTACGCAGAGATAACTGTAGACCGCACCGAGGGCGTTTTATCATCTACGCTGGCTGACCGCATATGCCGCGGTCC
+ATACCTTACCATGCTTGGAAACACAGACCCGACTCCACCAGTCGCCTTGAGTCGGTAGCCTCAAGGATCAGCGAGACGTT
+CATCCCCTTAGCTTCTTCTAGAACTTATTACTCGGTAACGATTCGCAACTTCGTCCGAACTAGGGTGCGAGGTAACTAAC
+CTCCGTGTAATGTTGCGGAGTAGCCCTAAAATGTGGGTACATTCCCTTGTCGATATAAAAAGTATTAATGAACAGTTTAT
+ACATTTCAGGAGAGAAACTGTAAGGCGCTACCAAATAAATGGACACGCTCGCTAATCGATCACGAACGATTATCGTATGC
+GGCTGCCGCCCTACCGAAAAGTCGAGAATTTAGCCCTGTACTCCCCAGTCGCAGCAGGGGCTGCCTGCTCAATCGATCAC
+CCGAGGTACCACCTGTCGGTCCGTAGCGTCGCCCTTTGCATCAGATACATCATGCTCGACGCTAAGTGATGCTGGTCGGG
+CAAGCCCTAACTGCGCAAATCGCGAAACTGATTCATAGTTCCGATGAAGTGTTTCTAATCGCGACAATCCGCCTCCGTTT
+CGTATGTGTGTAGCTCTATTCTCTCATAATTGTTCATTTCCTGTTTGGCGTGCAAGGTACGCAAGTTTTGTCCGCGTTAC
+ATTTATTGGTTAGACCCACTAGCTCGAGATTCCATGTCGCCACCGTCGCAACGGGGGCAACATTTTGGACGCCCTGGCGT
+TACGAAAATTGTCTGTCCTCTTATGTAAAACGCTTACGCCTTAATAAGCTGGTGGCATGTAGGCGTTAATGCTGATGTCG
+GTGAAGCAATCCATTATATCTGACCTCGAGTGCTCGCTTGCCACCAGACGGCCTCAATTGCAAAACAGGCCAGAGAACAT
+CGCGGCTTAAGGTAGAAACGTTGCGTCGGCCAAAATTAGGCGTACCCAAAGTCTGAGTAAGGTTGGGCCCGGGTCGGCCA
+TCCCTCGACACAATCGTGACGTTGGTTTGCGGAAGACTCAAATCATTAACGAACCCATCAGGGGTCCTAAGTTTAAGTTA
+CCGGAGCATCCTATCGACTCGATCATCCCTTCAAATTACTAATGGTAGGGGCCGGCGTACGTGCAGTGGTTCACACGGAT
+CAGGTAATGATGTAACGCAGACGCTTTGTGGGCCTGGGGACGTCAGTAATCCCGGGCCCCCTCTTAAGAGTAACGTCTGC
+AGAACTCCTAGATTATCACTCGGTTCGGTGCCCTCTGCACGTTGGTGGTGGAGAGGAGACTATAATAGTCTGCATACCTC
+CAAAACACCAGCAACCCCCTAATGCTCAACCCCATCTGAGTCCAGATCTTGCTCACTCTATCGTCCGGGAGGCCAAGCCG
+TCGCCTCATCCGAGGACTGCTGTGTGAATGGCTTCATGACTCAACTCAGCGACCCTGAATCTGCGGGGGAAACGAGTAGT
+GGCGCTGTATCTCGCCTTACCCAAAGAGTCAAACGACTGGCCAACACTTTGTGGAAACTAATCCGAGGCCATAGGACTTG
+CTTCCAAGATAGGCCGCATACCTTCTTACCCAGGAGTTCAATTCGGTGCGTGCACTAAAAAGAGTCGAATCAAACAGTAA
+AATGCGAATTAGCTATCATGTTTTTAATTACCGTAAGAGTCATTTTTAACGAGTGGCCCCGGCCCTGAAATCCTGTCGAA
+CCGCGCCCTCCAAGCATGGTTAAAAACCTGCGTTTGTACTTCCGGCGTACAGCGTTGCTCATGACGCGATATTCCGCTGC
+ATTATCGGGTTACGAAGCTAAGAGCAATCAGAAGATCAAGCATTAACGCGTGGGCAAACTGTTCGGCTCGGCGTAATGCT
+AGCTATCGCTGGACTGTAATCCCGCAGGCGTCAATCGCAGATATTAAACGCATGACAAGAGTTGGTCCAATTTCAACTCA
+GATTTAACACGAAGTAACACCCCATGCAACGTAGTTATGTGGTGCGTCTCCGGCGAGTAGTCGTGACCAAATGTGCCGTG
+TGCATCAGTGAGGGCCCATAAGAAAGTTAAGCGAAACCGCTATCACGGTTTACTTTGAGCCCCGAACAAAGGCTTTCCGG
+CATCGACCTGGCGGGTGAATGGGGCCGCGTTATGTCGTGACTCCTGCCCTGAGTCAGTCCTTAAGGGGACGAATCTAAAT
+CTCGGTACCCCGCGAATAGTAGAGTTTCCCCTTTTGCACCACGGTAGTCGTCGGCCATTTACATCCGCGACTTTTTGCAA
+GGTGATCGGTACAGAATGACGATTTACCTAAGGAGTTTGGCGGCGGTTAAAAGTGACTTGAAGTTCCGTGGACGCATTCC
+GAGTGGCTATGCTCGCTCTAGTGATACCTGTTGCGTTCGCGATCATGTTGCAAGCAAGGAGGGTATCTTATAATGGTGCA
+ACGTGCGTGTTGCGCAACGGAGGCGTACGCGAATTATAGGTCGGGTATTTAGAGTAAAAGTATGCGCTACTGTGCGGGTC
+GAATAACTTGACAGACCTCACCGGAGTGACGTGCATCAGAAAGAGCCCTAACTCATAGCTCGGTGGTATCCGTGGTCAAG
+AACGAGTGAGGATTGCCTTTCTTCCAAGTAAGGCTTCGGCGTTGCGTGGGGAGTTTGGGTGTGAATGTCCCATAGTACCA
+GGACTGTACGCCGCCATACACAGAACAGACCCATACTACCCTAAACGTAACGCCGTGCTTGTTCAAAAGTAGCTGCCCTA
+AGATTTATAGTGGATGGAAATTCGAACCGACCGGCCCCCCAAAGACTAATCCAAGTCGCTGCGACTAGAGTGAGTAGCGT
+AGAAGCTTTTTCGTACTGAGGAAGTGGCGTTATCTCCAAAGTTCGGCAGGAAAAATTCTGATGACGCAGGGCGCATTATA
+TGTTTAGCGTGGTACGTTAAGCTAAATACGGAAACGAAATTAGGTGCATTGAAAAGATTAGCGACGCACAAGGATACGTA
+TACAGATCTTAAAATCGATTTGAGGGAGCTCATGTTGAATAGCCGTCAGTCATACCCGCTCTGACCGGTCGCGGGGAATA
+GTTACTTTCATTTATAATGCATCGGATTACAAGTAAGGGCCCTGCATATGATGTGTTGGCATGTAAGAAGGTTCCGTATG
+AAAGTACGAGTCGGACTGGTACTACCCATGTGACGATAGCGTCACTAGTTGTATGGGTCTCCTCTTCAGAAGCTATGTTA
+ACTACCAATCCCTGAAGATCTTACTTCGGCTGGGGATATCACACCACGTCAGTTTACCTCGCCAACGCAGCTCCCATTGC
+GAACCGTGGCTATCTACCCGAGCGCATGAGGCTTGGCACATATCGACTACTAATCGACCTTGATATGTGGCCCGGTAACA
+GGCTGCCGTTTTAGGCCTTACGACCACCACATTCTGGACACTCTTCATCAACTTGCTTATAGTTGAGTATGCATGGTTGC
+GTAACGGAGTACGACGCATCGATTTGCTGGGACGACTACCTCCAATAGCCTTAAAGGATTCGGAGTAAAGATAACAGTCC
+TCGCGCGCAAGTCCGTCTTCTCGTGGCGCGAAAGGCTGTCAACTCAGCTACACCTTGCGGACGTTATCTCCATCTCAACC
+GCGTTTCTCTTAGAATGCTCGCGCGCTTACGAAAACGCAATCTTTTCTATACGTCAACATTTTCCAGGGTCGACCAGTGG
+AATAAATAAAGGTTCCAGTACTTGTACACTGATGATAAGCCTACAGGACAGGCCCGGCCGGTAAACAAAGGCAGTCATCC
+GGAGGCCTACAATAACCACAGTGTGCAATGTTGAAACGCGTCCCACGTTTTGAGGATTGACAGTCGATGTTGTCTGCGTC
+CTCAGCGCCTTCTCGCATGGCCTAACGACCGACCCTGTAACTAGAACCTGCTACCCGGCGGAAGCAGGGCTCACCTGCCC
+CAGTCTGCAGAGGCTCCATTCAATGCACCCAGGGAAAGCAGTCCTACGAAGAAACTCAACTTTGTGTGCGATGAGGCCGT
+CGCGACCACGACGTGATTCGCTCTGCGCAGCGCGTCTCCTGCCGGTTGACTCGCATAAATCTTTGATATTCAGATATGTT
+CGCTGACCCAATTAGGGATTCCGAAGTGCTGCCGGAACCAATCAAGCATTCGATTAGTTGCAGACTCACCCTAGGTGTAA
--- /dev/null	Thu Jan 01 00:00:00 1970 +0000
+++ b/test-data/reference.fasta.fai	Fri Oct 24 13:26:58 2025 +0000
@@ -0,0 +1,1 @@
+chr1	10000	6	80	81
--- a/test-data/results.tsv	Thu Jan 27 17:06:42 2022 +0000
+++ /dev/null	Thu Jan 01 00:00:00 1970 +0000
@@ -1,4 +0,0 @@
-	type	total.truth	total.query	tp	fp	fn	unk	ambi	recall	recall_lower	recall_upper	recall2	precision	precision_lower	precision_upper	na	ambiguous	fp.region.size	fp.rate
-0	indels	1	1	0	1	1	0	0	0.0	0.0	0.975000	0.0	0.0	0.0	0.975000	0.0	0.0	49950	20.02002
-1	SNVs	4	3	0	3	4	0	0	0.0	0.0	0.602365	0.0	0.0	0.0	0.707598	0.0	0.0	49950	60.06006
-5	records	4	4	0	4	4	0	0	0.0	0.0	0.602365	0.0	0.0	0.0	0.602365	0.0	0.0	49950	80.08008