public void VarCallsBecomeRefsAndNulls()
{
var originalVcfVariant = TestHelper.CreateDummyAllele("chr1", 123, "A", "T", 1000, 156);
var originalVcfVariant2 = TestHelper.CreateDummyAllele("chr1", 124, "A", "T", 1000, 156);
var vs1 = new VariantSite(originalVcfVariant);
var vs2 = new VariantSite(originalVcfVariant2);
var vcParams = new VariantCallingParameters();
vcParams.Validate();
var caller = new VariantCaller(vcParams, new BamFilterParameters());
//since there is an alt at position 124 ( a call of 156 alt / 1000 total, that means 844 original ref calls.
//Of which we said, 100 will get sucked up. So that leaves 744 / 1000 calls for a reference.
//So, we can still make a confident ref call.
var nbhd = new VcfNeighborhood(vcParams, 0, "chr1", vs1, vs2, "");
nbhd.SetRangeOfInterest();
nbhd.AddAcceptedPhasedVariant(
new CalledAllele(AlleleCategory.Snv)
{
Chromosome = "chr1",
ReferencePosition = 123,
ReferenceAllele = "A",
AlternateAllele = "T",
VariantQscore = 100,
TotalCoverage = 1000,
AlleleSupport = 500
});
nbhd.UsedRefCountsLookup = new Dictionary <int, SuckedUpRefRecord>()
{
};
caller.CallMNVs(nbhd);
caller.CallRefs(nbhd);
var acceptedMNVs = nbhd.CalledVariants;
var acceptedRefs = nbhd.CalledRefs;
Assert.Equal(1, acceptedMNVs.Count);
Assert.Equal(1, acceptedMNVs[123].Count);
Assert.Equal(2, acceptedRefs.Count);
var vcfVariant2asRef = new VcfVariant()
{
ReferenceName = "chr1",
ReferencePosition = 124,
ReferenceAllele = "A",
VariantAlleles = new[] { "." },
Genotypes = new List <Dictionary <string, string> >()
{
new Dictionary <string, string>()
{
{ "GT", "0/." }, { "DP", "1000" }, { "AD", "844" }
}
},
};
VcfMergerTests.CheckVariantsMatch(originalVcfVariant, acceptedMNVs[123][0]);
VcfMergerTests.CheckVariantsMatch(vcfVariant2asRef, acceptedRefs[124]);
// If one has been sucked up and there are refs remaining, we should output it as a ref.
var suckedUpRefRecord100 = new SuckedUpRefRecord()
{
Counts = 100, AlleleThatClaimedIt = new CalledAllele()
};
nbhd.UsedRefCountsLookup = new Dictionary <int, SuckedUpRefRecord>()
{
{ 124, suckedUpRefRecord100 }
};
caller.CallMNVs(nbhd);
caller.CallRefs(nbhd);
acceptedMNVs = nbhd.CalledVariants;
acceptedRefs = nbhd.CalledRefs;
Assert.Equal(1, acceptedMNVs.Count);
Assert.Equal(1, acceptedMNVs[123].Count);
Assert.Equal(2, acceptedRefs.Count);
vcfVariant2asRef = new VcfVariant()
{
ReferenceName = "chr1",
ReferencePosition = 124,
ReferenceAllele = "A",
VariantAlleles = new[] { "." },
Genotypes = new List <Dictionary <string, string> >()
{
new Dictionary <string, string>()
{
{ "GT", "0/." }, { "DP", "1000" }, { "AD", "744" }
}
},
};
VcfMergerTests.CheckVariantsMatch(originalVcfVariant, acceptedMNVs[123][0]);
VcfMergerTests.CheckVariantsMatch(vcfVariant2asRef, acceptedRefs[124]);
// If one has been sucked up all the way
// we should output it as a null.
var suckedUpRefRecord1000 = new SuckedUpRefRecord()
{
Counts = 1000, AlleleThatClaimedIt = new CalledAllele()
};
nbhd.UsedRefCountsLookup = new Dictionary <int, SuckedUpRefRecord>()
{
{ 124, suckedUpRefRecord1000 }
};
caller.CallMNVs(nbhd);
caller.CallRefs(nbhd);
acceptedMNVs = nbhd.CalledVariants;
acceptedRefs = nbhd.CalledRefs;
Assert.Equal(1, acceptedMNVs.Count);
Assert.Equal(1, acceptedMNVs[123].Count);
Assert.Equal(2, acceptedRefs.Count);
var vcfVariant2asNull = new VcfVariant()
{
ReferenceName = "chr1",
ReferencePosition = 124,
ReferenceAllele = "A",
VariantAlleles = new[] { "." },
Genotypes = new List <Dictionary <string, string> >()
{
new Dictionary <string, string>()
{
{ "GT", "./." }, { "DP", "1000" }, { "AD", "0" }
}
},
};
VcfMergerTests.CheckVariantsMatch(originalVcfVariant, acceptedMNVs[123][0]);
VcfMergerTests.CheckVariantsMatch(vcfVariant2asNull, acceptedRefs[124]);
}
public void CallAVariantInANewLocation()
{
//set up the original variants
var originalVcfVariant1 = TestHelper.CreateDummyAllele("chr1", 123, "A", "T", 1000, 156);
var originalVcfVariant2 = TestHelper.CreateDummyAllele("chr1", 124, "A", "T", 1000, 156);
var originalVcfVariant3 = TestHelper.CreateDummyAllele("chr1", 234, "A", "T", 1000, 156);
var originalVcfVariant4 = TestHelper.CreateDummyAllele("chr1", 234, "A", "T", 1000, 156);
var vs1 = new VariantSite(originalVcfVariant1);
var vs2 = new VariantSite(originalVcfVariant2);
var vs3 = new VariantSite(originalVcfVariant3);
var vs4 = new VariantSite(originalVcfVariant4);
var vcParams = new VariantCallingParameters();
vcParams.Validate();
var caller = new VariantCaller(vcParams, new BamFilterParameters());
var nbhd = new VcfNeighborhood(vcParams, 0, "chr1", vs1, vs2, "");
nbhd.AddVariantSite(vs3, "RRRRR"); //note, we do not add vs4, that is not going to get used for phasing. Sps it is a variant that failed filters.
nbhd.SetRangeOfInterest();
//now stage one candidate MNV:
var newMNV = new CalledAllele(AlleleCategory.Snv)
{
Chromosome = "chr1",
ReferencePosition = 129,
ReferenceAllele = "A",
AlternateAllele = "TT",
VariantQscore = 100,
TotalCoverage = 1000,
AlleleSupport = 500
};
nbhd.AddAcceptedPhasedVariant(newMNV);
var suckedUpRefRecord1000 = new SuckedUpRefRecord()
{
Counts = 1000, AlleleThatClaimedIt = new CalledAllele()
};
nbhd.UsedRefCountsLookup = new Dictionary <int, SuckedUpRefRecord>()
{
{ 124, suckedUpRefRecord1000 }
};
caller.CallMNVs(nbhd);
caller.CallRefs(nbhd);
var acceptedMNVs = nbhd.CalledVariants;
var acceptedRefs = nbhd.CalledRefs;
var vcfVariant0asRef = new VcfVariant()
{
ReferenceName = "chr1",
ReferencePosition = 123,
ReferenceAllele = "A",
VariantAlleles = new[] { "." },
Genotypes = new List <Dictionary <string, string> >()
{
new Dictionary <string, string>()
{
{ "GT", "0/." }
}
},
};
var vcfVariant3asRef = new VcfVariant()
{
ReferenceName = "chr1",
ReferencePosition = 234,
ReferenceAllele = "A",
VariantAlleles = new[] { "." },
Genotypes = new List <Dictionary <string, string> >()
{
new Dictionary <string, string>()
{
{ "GT", "0/." }
}
},
};
var vcfVariant2asNull = new VcfVariant()
{
ReferenceName = "chr1",
ReferencePosition = 124,
ReferenceAllele = "A",
VariantAlleles = new[] { "." },
Genotypes = new List <Dictionary <string, string> >()
{
new Dictionary <string, string>()
{
{ "GT", "./." }
}
},
};
Assert.Equal(1, acceptedMNVs.Count);
Assert.Equal(1, acceptedMNVs[129].Count);
Assert.Equal(3, acceptedRefs.Count);
VcfMergerTests.CheckVariantsMatch(vcfVariant0asRef, acceptedRefs[123]);
VcfMergerTests.CheckVariantsMatch(vcfVariant2asNull, acceptedRefs[124]);
VcfMergerTests.CheckVariantsMatch(newMNV, acceptedMNVs[129][0]);
VcfMergerTests.CheckVariantsMatch(vcfVariant3asRef, acceptedRefs[234]);
}