Compare str comparison improvements

RELEASE_NOTES.rst

@@ -1,3 +1,14 @@
+Unreleased changes
+-----
+
+CompareSTR and mergeutils changes:
+
+* CompareSTR: the tool now only compares records that start and end at the same position. If overlap in records is detected,
+  the program will output a warning to the user. This warning contains IDs of the records and their positions.
+
+* mergeutils: function GetMinHarmonizedRecords was transformed into GetRecordComparabilityAndIncrement, which allows the caller
+  to define custom predicate that decides whether records are comparable.
+
 4.0.2
 -----
 

trtools/compareSTR/tests/test_compareSTR.py

@@ -1,9 +1,10 @@
 import argparse
 import os
+from typing import List
 
 import numpy as np
 import pytest
-
+from trtools.utils.tests.test_mergeutils import DummyHarmonizedRecord
 from ..compareSTR import *
 
 
@@ -173,6 +174,97 @@ def test_main(tmpdir, vcfdir):
     retcode = main(args)
     assert retcode == 1
 
+def test_no_comparable_records(tmpdir, vcfdir, capfd):
+    vcfcomp = os.path.join(vcfdir, "compareSTR_vcfs")
+    hipstr_vcf_1 = os.path.join(vcfcomp, "test_no_comparable_records_1.vcf.gz")
+    hipstr_vcf_2 = os.path.join(vcfcomp, "test_no_comparable_records_2.vcf.gz")
+
+    args = base_argparse(tmpdir)
+    args.vcf1 = hipstr_vcf_1
+    args.region = ""
+    args.vcf2 = hipstr_vcf_2
+
+    ret = main(args)
+    _, err = capfd.readouterr()
+    assert ret == 1
+    assert err == "No comparable records were found, exiting!\n"
+
+
+def test_better_comparability_calculation(tmpdir, vcfdir, capfd):
+    vcfcomp = os.path.join(vcfdir, "compareSTR_vcfs")
+
+    test_vcf_1 = os.path.join(vcfcomp, "test_better_comparability_calculation_1.vcf.gz")
+    test_vcf_2 = os.path.join(vcfcomp, "test_better_comparability_calculation_2.vcf.gz")
+
+    args = base_argparse(tmpdir)
+    args.vcf1 = test_vcf_1
+    args.region = ""
+    args.vcftype1 = 'hipstr'
+    args.vcf2 = test_vcf_2
+    args.vcftype2 = 'hipstr'
+    retcode = main(args)
+    assert retcode == 0
+    with open(tmpdir + "/test_compare-locuscompare.tab", "r") as out_overall:
+        lines = out_overall.readlines()
+        # Two of the records wont be compared
+        assert len(lines) == 2
+        _, err = capfd.readouterr()
+                        ## first output is about records that have the same starting position but different end pos
+        assert err == ("Records STR_40 and STR_40 overlap:\n"
+                        "STR_40: (112695, 112700)\n"
+                        "STR_40: (112695, 112702),\n"
+                        "but are NOT comparable!\n"
+                       ## second is more general, they just sort of overlap each other
+                        "Records STR_41 and STR_41 overlap:\n"
+                        "STR_41: (113695, 113700)\n"
+                        "STR_41: (113693, 113702),\n"
+                        "but are NOT comparable!\n"
+                       ## ends are the same but start positions are different 
+                       "Records STR_42 and STR_42 overlap:\n"
+                       "STR_42: (114695, 114700)\n"
+                       "STR_42: (114693, 114700),\n"
+                       "but are NOT comparable!\n"
+                       )
+def test_comparability_handler(tmpdir, vcfdir, capfd):
+
+    ### Tests without arguments
+    handler = handle_overlaps
+
+    records = [None, None]
+    chrom_idxs = [np.inf, np.inf]
+    min_idx = np.inf
+
+    assert not handler(records, chrom_idxs, min_idx)
+
+    records = [DummyHarmonizedRecord("chr1", 10), None]
+    min_idx = 0
+
+    assert not handler(records, chrom_idxs, min_idx)
+
+    records = [None, DummyHarmonizedRecord("chr1", 10, 4, "AC")]
+    chrom_idxs = [np.inf, 0]
+    assert not handler(records, chrom_idxs, min_idx)
+
+    records = [DummyHarmonizedRecord("chr2", 10, 4, "AC", end_pos=17), DummyHarmonizedRecord("chr1", 10, 4, "AC", end_pos=17)]
+    chrom_idxs = [1, 0]
+    # records from different chromosomes aren't comparable
+    assert not handler(records, chrom_idxs, min_idx)
+
+    chrom_idxs = [0, 0]
+    assert handler(records, chrom_idxs, min_idx)
+
+    records = [DummyHarmonizedRecord("chr1", 10, 5, "AC", "rec1", end_pos=19), DummyHarmonizedRecord("chr1", 10, 4, "AC", "rec2", end_pos=17)]
+    assert not handler(records, chrom_idxs, min_idx)
+    _, err = capfd.readouterr()
+    assert err != ""
+
+    records = [DummyHarmonizedRecord("chr1", 10, 4, "AC", end_pos=17), DummyHarmonizedRecord("chr1", 10, 4, "TG", end_pos=17)]
+    assert handler(records, chrom_idxs, min_idx)
+
+    records = [DummyHarmonizedRecord("chr1", 8, 5, "AC", end_pos=17), DummyHarmonizedRecord("chr1", 10, 4, "AC", end_pos=17)]
+    assert not handler(records, chrom_idxs, min_idx)
+
+
 def test_hipstr_position_harmonisation(tmpdir, vcfdir):
     vcfcomp = os.path.join(vcfdir, "compareSTR_vcfs")
 
@@ -188,6 +280,7 @@ def test_hipstr_position_harmonisation(tmpdir, vcfdir):
     retcode = main(args)
     assert retcode == 0
 
+
     with open(tmpdir + "/test_compare-locuscompare.tab", "r") as out_overall:
         lines = out_overall.readlines()
         ## vcf1 : flank bp at start of record, vcf2: no flanking bp

trtools/utils/mergeutils.py

@@ -12,7 +12,7 @@
 import trtools.utils.common as common
 import trtools.utils.tr_harmonizer as trh
 
-from typing import List, Union, Any, Optional, Callable
+from typing import List, Union, Any, Optional, Callable, Tuple
 
 CYVCF_RECORD = cyvcf2.Variant
 CYVCF_READER = cyvcf2.VCF
@@ -249,12 +249,13 @@ def GetMinRecords(record_list: List[Optional[trh.TRRecord]], chroms: List[str])
 
 
 
-def GetMinHarmonizedRecords(record_list: List[Optional[trh.TRRecord]], chroms: List[str]) -> List[bool]:
-    r"""Check if each record is next up in sort order
+def GetRecordComparabilityAndIncrement(record_list: List[Optional[trh.TRRecord]],
+                                       chroms: List[str],
+                                       overlap_callback: Callable[[List[Optional[trh.TRRecord]], List[int], int], bool]) \
+        -> Tuple[List[bool], bool]:
+    r"""Get list that says which records should be skipped in the next
+     iteration, and whether they are all comparable with each other
 
-    Return a vector of boolean set to true if
-    the record is in lowest sort order of all the records
-    Use order in chroms to determine sort order of chromosomes
 
     Parameters
     ----------
@@ -264,21 +265,28 @@ def GetMinHarmonizedRecords(record_list: List[Optional[trh.TRRecord]], chroms: L
     chroms : list of str
        Ordered list of all chromosomes
 
+    overlap_callback: Callable[[List[Optional[trh.TRRecord]], List[int], int], bool]
+        Function that calculates whether the records are comparable
+
     Returns
     -------
-    checks : list of bool
-       Set to True for records that are first in sort order
+    increment : list of bool
+       List or bools, where items are set to True when the record at the index of the item should be
+       skipped during VCF file comparison.
+    comparable: bool
+        Value, that determines whether current records are comparable / mergable, depending on the callback
     """
     chrom_order = [np.inf if r is None else chroms.index(r.chrom) for r in record_list]
     pos = [np.inf if r is None else r.pos for r in record_list]
+    min_pos = min(pos)
+    min_chrom_index = min(chrom_order)
 
-    min_chrom = min(chrom_order)
-    allpos = [pos[i] for i in range(len(pos)) if GetChromOrderEqual(chrom_order[i], min_chrom)]
-    if len(allpos) > 0:
-        min_pos = min(allpos)
-    else:
-        return [False] * len(record_list)
-    return [False if r is None else r.chrom == chroms[min_chrom] and r.pos == min_pos for r in record_list]
+    increment = \
+        [chrom_order[i] == min_chrom_index and pos[i] == min_pos and record_list[i] is not None
+         for i in range(len(chrom_order))]
+    comparable = overlap_callback(record_list, chrom_order, min_chrom_index)
+
+    return increment, comparable
 
 
 def DoneReading(records: List[Union[CYVCF_RECORD, trh.TRRecord]]) -> bool:

trtools/utils/tests/test_mergeutils.py

@@ -23,9 +23,13 @@ def __init__(self, chrom, pos, ref, alts=[], info={}):
 
 
 class DummyHarmonizedRecord:
-    def __init__(self, chrom, pos):
+    def __init__(self, chrom, pos, reflen=None, motif=None, record_id=None, end_pos=None):
         self.chrom = chrom
         self.pos = pos
+        self.end_pos = end_pos
+        self.ref_allele_length = reflen
+        self.motif = motif
+        self.record_id = record_id
 
 
 def test_DebugPrintRecordLocations(capsys):
@@ -95,26 +99,38 @@ def test_UnzippedUnindexedFile(mrgvcfdir):
     assert "Could not find VCF index" in str(info.value)
 
 
-def test_GetMinHarmonizedRecords():
+def test_GetRecordComparabilityAndIncrement():
     chromosomes = ["chr1", "chr2", "chr3"]
 
+    def comp_callback_true(x, y, z):
+        return True
+
+    def comp_callback_false(x, y, z):
+        return False
+
+
     pair = [DummyHarmonizedRecord("chr1", 20), DummyHarmonizedRecord("chr1", 20)]
-    assert mergeutils.GetMinHarmonizedRecords(pair, chromosomes) == [True, True]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_true) == ([True, True], True)
+
+    # these two test cases show that second result of GetRecordComparabilityAndIncrement is
+    # entirely dependant on the callback
+    pair = [DummyHarmonizedRecord("chr1", 21), DummyHarmonizedRecord("chr1", 20)]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_false) == ([False, True], False)
 
     pair = [DummyHarmonizedRecord("chr1", 21), DummyHarmonizedRecord("chr1", 20)]
-    assert mergeutils.GetMinHarmonizedRecords(pair, chromosomes) == [False, True]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_true) == ([False, True], True)
 
     pair = [DummyHarmonizedRecord("chr2", 20), DummyHarmonizedRecord("chr1", 20)]
-    assert mergeutils.GetMinHarmonizedRecords(pair, chromosomes) == [False, True]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_false) == ([False, True], False)
 
     pair = [DummyHarmonizedRecord("chr1", 20), DummyHarmonizedRecord("chr1", 21)]
-    assert mergeutils.GetMinHarmonizedRecords(pair, chromosomes) == [True, False]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_true) == ([True, False], True)
 
     pair = [None, None]
-    assert mergeutils.GetMinHarmonizedRecords(pair, chromosomes) == [False, False]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_false) == ([False, False], False)
 
     pair = [DummyHarmonizedRecord("chr1", 20), None]
-    assert mergeutils.GetMinHarmonizedRecords(pair, chromosomes) == [True, False]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_false) == ([True, False], False)
 
     pair = [None, DummyHarmonizedRecord("chr1", 20)]
-    assert mergeutils.GetMinHarmonizedRecords(pair, chromosomes) == [False, True]
+    assert mergeutils.GetRecordComparabilityAndIncrement(pair, chromosomes, comp_callback_false) == ([False, True], False)

trtools/utils/tr_harmonizer.py

@@ -579,6 +579,12 @@ class TRRecord:
         The chromosome this locus is in
     pos : int
         The bp along the chromosome that this locus is at (ignoring flanking base pairs/full alleles)
+    end_pos:
+        Position of the last bp of ref allele (ignoring flanking base pairs/full alleles)
+    full_alleles_pos:
+        Position of the first bp of the full ref allele (including the flanking base pairs)
+    full_alleles_end_pos:
+        Position of the last bp of the full ref allele (including the flanking base pairs)
     info : Dict[str, Any]
         The dictionary of INFO fields at this locus
     format : Dict[str, np.ndarray]
@@ -680,6 +686,13 @@ def __init__(self,
             self.has_fabricated_ref_allele = False
             self.ref_allele_length = len(ref_allele) / len(motif)
 
+        # declaration of end_pos variables. Values are rounded because self.ref_allele_length can
+        # sometimes be a float because of partial repeats. This can cause weird float problems, and simple cast
+        # is not enought to ensure that the proper position is calculated
+        self.end_pos = round(self.pos + self.ref_allele_length * len(motif) - 1)
+        self.full_alleles_end_pos = self.end_pos if full_alleles is None else \
+            round(self.full_alleles_pos + len(self.full_alleles[0]) - 1)
+
         if alt_allele_lengths is not None:
             self.has_fabricated_alt_alleles = True
             self.alt_alleles = [
@@ -692,6 +705,8 @@ def __init__(self,
                 len(allele) / len(motif) for allele in self.alt_alleles
             ]
 
+
+
         try:
             self._CheckRecord()
         except ValueError as e: