public patient_result_collections AddSnps(patient patient, result_files file, DateTime resultedOn, List<SnpResult> snps)
{
// Create a collection
var collection = patientRepo.AddCollection(patient, file);
// Create patient variant entries
List<patient_variants> variants = new List<patient_variants>();
foreach (var snp in snps)
{
var variant = GetVariant(snp.RSID, "dbSNP", snp.Position, snp.Position);
var patientVariant = new patient_variants()
{
patient_id = patient.id,
variant_type = Enums.PatientVariantType.SNP,
reference_id = variant.id,
resulted_on = resultedOn,
value1 = snp.Genotype[0].ToString(),
value2 = snp.Genotype[1].ToString()
};
variants.Add(patientVariant);
}
entities.patient_variants.AddRange(variants);
entities.SaveChanges();
// Finally, link the collection to the SNPs
foreach (var variant in variants)
{
var member = new patient_result_members()
{
collection_id = collection.id,
member_id = variant.id,
member_type = Enums.ResultMemberType.Variant,
};
entities.patient_result_members.Add(member);
}
entities.SaveChanges();
return collection;
}
public patient_result_collections AddStarVariants(patient patient, result_files file, DateTime resultedOn, List<StarVariantResult> stars)
{
// Create a collection
var collection = patientRepo.AddCollection(patient, file);
// Create patient variant entries
List<patient_variants> variants = new List<patient_variants>();
foreach (var star in stars)
{
var gene = AddGene(star.Gene, star.Gene, null, null, null);
var variant = AddVariant(star.Gene, star.Result, "Star Variant", null, null, null, null, null);
string[] splitStars = star.Result.Split(new string[]{"*"}, StringSplitOptions.RemoveEmptyEntries);
var patientVariant = new patient_variants()
{
patient_id = patient.id,
variant_type = Enums.PatientVariantType.StarVariant,
reference_id = variant.id,
resulted_on = resultedOn,
value1 = splitStars[0],
value2 = splitStars[1]
};
variants.Add(patientVariant);
}
entities.patient_variants.AddRange(variants);
entities.SaveChanges();
// Finally, link the collection to the stars
foreach (var variant in variants)
{
var member = new patient_result_members()
{
collection_id = collection.id,
member_id = variant.id,
member_type = Enums.ResultMemberType.Variant,
};
entities.patient_result_members.Add(member);
}
entities.SaveChanges();
return collection;
}
public override void LoadData(string filePath)
{
var vcfParser = new VCFParser(filePath);
var header = vcfParser.Header;
var collectionInformationList = new List<patient_variant_information>();
var patient = new patient();
// We pull out all of the metadata from the header (all lines) and write them as information
// lines associated with this result.
foreach (var headerItem in header.MetaDataInInputOrder)
{
if (headerItem.Key == "individual-id")
{
var individualParts = headerItem.Value.Replace("<", "").Replace(">", "").Split(new char[] { ',' });
var individualData = individualParts.Select(x => x.Split(new char[] { '=' })).ToArray();
var mrnParts = individualData.FirstOrDefault(x => x[0] == "Dbxref")[1].Split(':');
patient = patientRepo.AddPatient(mrnParts[1], mrnParts[0],
individualData.FirstOrDefault(x => x[0] == "First_name")[1],
individualData.FirstOrDefault(x => x[0] == "Last_name")[1],
DateTime.Parse(individualData.FirstOrDefault(x => x[0] == "DOB")[1]));
}
else if (headerItem.GetType() == typeof(VCFInfoHeaderLine))
{
var info = headerItem as VCFInfoHeaderLine;
collectionInformationList.Add(AddHeaderInformation(string.Format("VCF:{0}", headerItem.Key), CleanHeaderValue("INFO", info.ToString())));
}
else if (headerItem.GetType() == typeof(VCFFilterHeaderLine))
{
var filter = headerItem as VCFFilterHeaderLine;
collectionInformationList.Add(AddHeaderInformation(string.Format("VCF:{0}", headerItem.Key), CleanHeaderValue("FILTER", filter.ToString())));
}
else if (headerItem.GetType() == typeof(VCFFormatHeaderLine))
{
var format = headerItem as VCFFormatHeaderLine;
collectionInformationList.Add(AddHeaderInformation(string.Format("VCF:{0}", headerItem.Key), CleanHeaderValue("FORMAT", format.ToString())));
}
else
{
collectionInformationList.Add(AddHeaderInformation(string.Format("VCF:{0}", headerItem.Key), headerItem.Value));
}
}
var reference = header.MetaDataInInputOrder.First(x => x.Key == "reference").Value;
DateTime? resultDate = DateTime.ParseExact(header.MetaDataInInputOrder.First(x => x.Key == "fileDate").Value,
"yyyyMMdd", CultureInfo.InvariantCulture, DateTimeStyles.None);
var patientVariants = new List<patient_variants>();
var featureInformationList = new Dictionary<patient_variants, List<patient_variant_information>>();
while (vcfParser.MoveNext())
{
var current = vcfParser.Current;
var variant = variantRepo.AddVariant(null, current.ID, "dbSNP",
current.Chr, current.Start, current.End,
reference, current.Reference.BaseString);
var patientVariant = new patient_variants()
{
patient_id = patient.id,
reference_id = variant.id,
resulted_on = resultDate,
variant_type = Enums.PatientVariantType.SNP
};
SetVariantValues(patientVariant, current);
patientVariants.Add(patientVariant);
var attributeList = new List<patient_variant_information>();
foreach (var attribute in current.Attributes)
{
attributeList.Add(AddVariantInformation(string.Format("VCF:{0}", attribute.Key), attribute.Value.ToString()));
}
if (current.FiltersMaybeNull != null)
{
foreach (var filter in current.FiltersMaybeNull)
{
attributeList.Add(AddVariantInformation("VCF:Filter", filter));
}
}
foreach (var genotype in current.Genotypes)
{
attributeList.Add(AddVariantInformation("VCF:Genotype", genotype.ToMHGRString()));
}
attributeList.Add(AddVariantInformation("VCF:Quality", current.PhredScaledQual.ToString()));
attributeList.Add(AddVariantInformation("VCF:Filter", string.Join(",", current.Filters.ToArray())));
featureInformationList.Add(patientVariant, attributeList);
}
// Save the collection to get its ID
var source = sourceRepo.AddSource("VCF", "VCF file");
var file = AddResultFile(filePath, source);
var collection = patientRepo.AddCollection(patient, file);
// Save the collection-level header data
collectionInformationList.ForEach(x => x.item_id = collection.id);
variantRepo.AddPatientVariantInformationList(collectionInformationList);
variantRepo.AddPatientVariants(patientVariants);
// Save the individual attributes associated with each feature.
// Must be done after the patient variants are written to DB (above), since we
// rely on the ID being set.
foreach (var pair in featureInformationList)
{
foreach (var attribute in pair.Value)
{
attribute.item_id = pair.Key.id;
}
variantRepo.AddPatientVariantInformationList(pair.Value);
}
variantRepo.AddPatientVariantsToCollection(collection, patientVariants);
featureInformationList.Clear();
collectionInformationList.Clear();
patientVariants.Clear();
}
private void SetVariantValues(patient_variants variant, VariantContext context)
{
if (context.Genotypes.Count >= 1)
{
var alleles = context.Genotypes[0].Alleles;
variant.value1 = alleles[0].DisplayString;
if (alleles.Count > 1)
{
variant.value2 = alleles[1].DisplayString;
}
else
{
variant.value2 = variant.value1;
}
}
}
public override void LoadData(string filePath)
{
string[] data = File.ReadAllLines(filePath);
List<Pragma> pragmas = new List<Pragma>();
List<string> comments = new List<string>();
List<Feature> features = new List<Feature>();
foreach (var row in data)
{
switch (GVFParserHelper.GetRowType(row))
{
case GVFParserHelper.RowType.Pragma: {
pragmas.Add(pragmaParser.Parse(row));
break;
}
case GVFParserHelper.RowType.Comment: {
comments.Add(row.Trim(CommentTrimChars));
break;
}
case GVFParserHelper.RowType.Data: {
features.Add(GVFParserHelper.ParseFeature(row));
break;
}
}
}
var source = sourceRepo.AddSource("GVF", "GVF file");
var file = AddResultFile(filePath, source);
patient patient = null;
var collectionInformationList = new List<patient_variant_information>();
string genomeBuild = null;
DateTime? resultDate = null;
// Process the file-level pragmas
foreach (var pragma in pragmas)
{
if (pragma.Name == "individual-id")
{
var mrnParts = pragma.Tags.FirstOrDefault(x => x.Name == "Dbxref").Value.Split(':');
patient = patientRepo.AddPatient(mrnParts[1], mrnParts[0],
pragma.Tags.FirstOrDefault(x => x.Name == "First_name").Value,
pragma.Tags.FirstOrDefault(x => x.Name == "Last_name").Value,
DateTime.Parse(pragma.Tags.FirstOrDefault(x => x.Name == "DOB").Value));
}
else if (pragma.Name == "phenotype-description")
{
var phenotype = phenotypeRepo.GetPhenotypeByExternalId(CreatePhenotype(pragma));
}
else if (pragma.Name == "genome-build")
{
genomeBuild = pragma.Value;
}
else if (pragma.Name == "file-date")
{
resultDate = DateTime.Parse(pragma.Value);
}
else
{
if (pragma.Tags.Count > 0)
{
foreach (var tag in pragma.Tags)
{
collectionInformationList.Add(AddPragmaInformation(string.Format("GVF:{0}:{1}", pragma.Name, tag.Name), tag.Value));
}
}
else
{
collectionInformationList.Add(AddPragmaInformation(string.Format("GVF:{0}", pragma.Name), pragma.Value));
}
}
}
// Convert all comments into individual variant information entries
foreach (var comment in comments)
{
collectionInformationList.Add(AddPragmaInformation("GVF:Comment", comment));
}
// Go through the individual features and build up both reference variants and
// the patient-level variants
var patientVariants = new List<patient_variants>();
var featureInformationList = new Dictionary<patient_variants, List<patient_variant_information> >();
foreach (var feature in features)
{
var variant = variantRepo.AddVariant(null,
feature.Attributes.FirstOrDefault(x => x.Name == "ID").Value, "dbSNP",
feature.Chromosome, feature.StartPosition, feature.EndPosition, genomeBuild,
feature.Attributes.FirstOrDefault(x => x.Name == "Reference_seq").Value);
var patientVariant = new patient_variants()
{
patient_id = patient.id,
reference_id = variant.id,
resulted_on = resultDate,
variant_type = Enums.PatientVariantType.SNP
};
SetVariantValues(patientVariant, feature.Attributes.FirstOrDefault(x => x.Name == "Variant_seq").Value, feature.Attributes.FirstOrDefault(x => x.Name == "Genotype").Value);
patientVariants.Add(patientVariant);
var attributeList = new List<patient_variant_information>();
attributeList.Add(AddFeatureInformation("GVF:Score", feature.Score));
attributeList.Add(AddFeatureInformation("GVF:Strand", feature.Strand));
attributeList.Add(AddFeatureInformation("GVF:Phase", feature.Phase));
foreach (var attribute in feature.Attributes.Where(x => x.Name != "Variant_seq" && x.Name != "Reference_seq" && x.Name != "ID"))
{
attributeList.Add(AddFeatureInformation(string.Format("GVF:{0}", attribute.Name), attribute.Value));
}
featureInformationList.Add(patientVariant, attributeList);
}
// Save the collection to get its ID
var collection = patientRepo.AddCollection(patient, file);
// Save the collection-level pragma data
collectionInformationList.ForEach(x => x.item_id = collection.id);
variantRepo.AddPatientVariantInformationList(collectionInformationList);
variantRepo.AddPatientVariants(patientVariants);
// Save the individual attributes associated with each feature.
// Must be done after the patient variants are written to DB (above), since we
// rely on the ID being set.
foreach (var pair in featureInformationList)
{
foreach (var attribute in pair.Value)
{
attribute.item_id = pair.Key.id;
}
variantRepo.AddPatientVariantInformationList(pair.Value);
}
variantRepo.AddPatientVariantsToCollection(collection, patientVariants);
}
private void SetVariantValues(patient_variants variant, string value, string genotype)
{
if (genotype == "homozygous")
{
variant.value1 = value;
variant.value2 = value;
}
else if (genotype == "heterozygous")
{
string[] values = value.Split(',');
variant.value1 = values[0];
variant.value2 = values[1];
}
}