public override string GetAnnotation(Polymorphism p)
{
if (MutationAssigner.MutationIsComplex(p.Mutation))
{
return(nullAnnotation);
}
else
{
var site = p.Position;
var refBP = Polymorphism.getReferenceBaseSingle(site);
var alt = MutationAssigner.getBase(p.Mutation);
var key = makeQueryString(site, refBP, alt);
if (!positionToData.ContainsKey(key))
{
key = makeQueryString(site, BigTableData.ALL_SITE_SAME, BigTableData.ALL_SITE_SAME);
if (positionToData.ContainsKey(key))
{
return(positionToData[key].Data);
}
return(nullAnnotation);
}
else
{
return(positionToData[key].Data);
}
}
}
public override string GetAnnotation(Polymorphism poly)
{
int pos = poly.position;
string reference, alt, inBestHaplotype;
alt = "ERROR";
//TODO: Move this logic in to polymorphism class
if (poly.mutation == Mutations.INS)
{
reference = "-";
}
else
{
reference = Polymorphism.rCRS[poly.position - 1].ToString();
alt = poly.InsertedPolys;
}
if (poly.mutation == Mutations.DEL)
{
alt = "-";
}
else if (MutationAssigner.MutationIsBasePair(poly.mutation))
{
alt = MutationAssigner.getBase(poly.mutation);
}
if (!validPolys.ContainsKey(poly.position))
{
inBestHaplotype = "MutationExcludedFromSearch";
}
else
{
inBestHaplotype = bestMatch.MatchingPolymorphisms.Contains(poly).ToString();
}
return(String.Join(FIELD_DELIM, new[] { pos.ToString(), reference, alt, inBestHaplotype }));
}
/// <summary>
/// Call SNPs from the sorted list of sequences using the pile-up method.
/// </summary>
/// <returns>The SN ps.</returns>
/// <param name="sequences">Sequences.</param>
public static SNPCallerReport CallSNPs(IEnumerable <CompactSAMSequence> sequences)
{
// Get a pile up and convert it to genotypes
var pileups = PileUpProducer.CreatePileupFromReads(sequences);
var genotypes = ContinuousGenotypeCaller.CallContinuousGenotypes(pileups).ToList();
// Filter down to a usable set
var usable = genotypes.Where(x => x.ResultType == GenotypeCallResult.GenotypeCalled && x.OriginalPosition.HasValue).ToList();
if (usable.Count == 0)
{
return(new SNPCallerReport(AlgorithmResult.Failed));
}
// Get median coverage at sites
var data_counts = usable.Select(x => x.TotalObservedBases).ToList();
data_counts.Sort();
var median = data_counts[data_counts.Count / 2];
//now create a cut-off for required coverage as the square root of the median.
var cut_off = Math.Sqrt(median);
//Get a list of genotypes, and if a simple SNP, make a polymorphism if it doesn't match
//the reference
var genotypedPositions = new HashSet <int> ();
List <Polymorphism> polys = new List <Polymorphism> ();
foreach (var geno in usable)
{
if (geno.TotalObservedBases >= cut_off)
{
genotypedPositions.Add(geno.OriginalPosition.Value);
var org_bp = ReferenceGenome.GetReferenceBaseAt_rCRSPosition(geno.OriginalPosition.Value);
var cur_bp = geno.GetMostFrequentGenotype();
if (org_bp != cur_bp[0])
{
var poly = new Polymorphism(geno.OriginalPosition.Value, MutationAssigner.getBase(cur_bp));
polys.Add(poly);
}
}
}
//Now assign haplotype
HaplotypeSearcher hts = new HaplotypeSearcher();
PolymorphismFilter pf = new PolymorphismFilter(p => p.IsSNP && genotypedPositions.Contains(p.Position));
var simpSample = new SimpleSample("Pileup", polys, pf);
var hap_report = hts.GetHaplotypeReport(simpSample);
return(new SNPCallerReport(genotypes, hap_report));
}
