private static (IDataSourceVersion, GenomeAssembly, string, ReportFor, int) ReadHeader(Stream stream)
{
using (var reader = new ExtendedBinaryReader(stream, Encoding.UTF8, true))
{
var identifier = reader.ReadAsciiString();
if (identifier != SaCommon.NsiIdentifier)
{
throw new InvalidDataException($"Failed to find identifier!!Expected: {SaCommon.NsiIdentifier}, observed:{identifier}");
}
var version = DataSourceVersion.Read(reader);
var assembly = (GenomeAssembly)reader.ReadByte();
var jsonKey = reader.ReadAsciiString();
var reportFor = (ReportFor)reader.ReadByte();
int schemaVersion = reader.ReadInt32();
var guard = reader.ReadUInt32();
if (guard != SaCommon.GuardInt)
{
throw new InvalidDataException($"Failed to find guard int!!Expected: {SaCommon.GuardInt}, observed:{guard}");
}
return(version, assembly, jsonKey, reportFor, schemaVersion);
}
}
//constructors
public CosmicItem(ExtendedBinaryReader reader)
{
if (reader == null)
{
return;
}
ID = reader.ReadAsciiString();
SaAltAllele = reader.ReadAsciiString();
AltAllele = SupplementaryAnnotationUtilities.ReverseSaReducedAllele(SaAltAllele);
RefAllele = reader.ReadAsciiString();
Gene = reader.ReadAsciiString();
SampleCount = reader.ReadOptNullableInt32();
var countStudy = reader.ReadOptInt32();
if (countStudy > 0)
{
Studies = new HashSet <CosmicStudy>();
}
for (var i = 0; i < countStudy; i++)
{
Studies.Add(new CosmicStudy(reader));
}
}
public void Read(ExtendedBinaryReader reader)
{
NumEvsSamples = reader.ReadAsciiString();
EvsCoverage = reader.ReadAsciiString();
EvsAfr = reader.ReadAsciiString();
EvsAll = reader.ReadAsciiString();
EvsEur = reader.ReadAsciiString();
}
public static ReferenceMetadata Read(ExtendedBinaryReader reader)
{
var ucscName = reader.ReadAsciiString();
var ensemblName = reader.ReadAsciiString();
reader.ReadBoolean(); // TODO: Remove this when we update the reference file format
return(new ReferenceMetadata(ucscName, ensemblName));
}
public static ReferenceMetadata Read(ExtendedBinaryReader reader)
{
string ucscName = reader.ReadAsciiString();
string ensemblName = reader.ReadAsciiString();
reader.ReadBoolean();
return(new ReferenceMetadata(ucscName, ensemblName));
}
internal DataSourceVersion(ExtendedBinaryReader reader)
{
Name = reader.ReadAsciiString();
Version = reader.ReadAsciiString();
ReleaseDateTicks = reader.ReadOptInt64();
Description = reader.ReadAsciiString();
_hashCode = Name.GetHashCode() ^ Version.GetHashCode() ^ ReleaseDateTicks.GetHashCode();
}
public static IDataSourceVersion Read(ExtendedBinaryReader reader)
{
var name = reader.ReadAsciiString();
var version = reader.ReadAsciiString();
var releaseDateTicks = reader.ReadOptInt64();
var description = reader.ReadAsciiString();
return(new DataSourceVersion(name, version, releaseDateTicks, description));
}
public static IChromosome Read(ExtendedBinaryReader reader)
{
string ucscName = reader.ReadAsciiString();
string ensemblName = reader.ReadAsciiString();
string refseqAccession = reader.ReadAsciiString();
string genBankAccession = reader.ReadAsciiString();
int length = reader.ReadOptInt32();
ushort refIndex = reader.ReadOptUInt16();
return(new Chromosome(ucscName, ensemblName, refseqAccession, genBankAccession, length, refIndex));
}
public SuppInterval(ExtendedBinaryReader reader)
{
string ensemblName = reader.ReadAsciiString();
string ucscName = reader.ReadAsciiString();
ushort chromIndex = reader.ReadOptUInt16();
Chromosome = new Chromosome(ucscName, ensemblName, chromIndex);
Start = reader.ReadOptInt32();
End = reader.ReadOptInt32();
_jsonString = reader.ReadString();
}
public static SuppInterval Read(ExtendedBinaryReader reader)
{
string ensemblName = reader.ReadAsciiString();
string ucscName = reader.ReadAsciiString();
ushort chromIndex = reader.ReadOptUInt16();
var chromosome = new Chromosome(ucscName, ensemblName, null, null, 1, chromIndex);
var start = reader.ReadOptInt32();
var end = reader.ReadOptInt32();
var jsonString = reader.ReadString();
return(new SuppInterval(chromosome, start, end, jsonString));
}
public static OmimAnnotation Read(ExtendedBinaryReader reader)
{
var hgnc = reader.ReadAsciiString();
var description = reader.ReadAsciiString();
var mimNumber = reader.ReadOptInt64();
var phenotypeCount = reader.ReadOptInt32();
var phenotypes = new List <Phenotype>();
for (var i = 0; i < phenotypeCount; i++)
{
phenotypes.Add(Phenotype.ReadPhenotype(reader));
}
return(new OmimAnnotation(hgnc, description, mimNumber, phenotypes));
}
private void PreLoad(IChromosome chrom)
{
_annotations.Clear();
_chromosome = chrom;
(long startLocation, int numBytes, int refMinorCount) = _index.GetFileRange(chrom.Index);
if (startLocation == -1)
{
return;
}
_reader.BaseStream.Position = startLocation;
var buffer = _reader.ReadBytes(numBytes);
using (var memStream = new MemoryStream(buffer))
using (var reader = new ExtendedBinaryReader(memStream))
{
for (var i = 0; i < refMinorCount; i++)
{
var position = reader.ReadOptInt32();
var globalMajor = reader.ReadAsciiString();
_annotations[position] = globalMajor;
}
}
}
public static NgaReader Read(Stream stream)
{
(IDataSourceVersion version, string jsonKey, bool isArray) = ReadHeader(stream);
Dictionary <string, List <string> > geneSymbolToJsonStrings;
using (var blockStream = new BlockStream(new Zstandard(), stream, CompressionMode.Decompress))
using (var reader = new ExtendedBinaryReader(blockStream))
{
int geneCount = reader.ReadOptInt32();
geneSymbolToJsonStrings = new Dictionary <string, List <string> >(geneCount);
for (var i = 0; i < geneCount; i++)
{
string geneSymbol = reader.ReadAsciiString();
int numEntries = reader.ReadOptInt32();
var entries = new List <string>(numEntries);
for (var j = 0; j < numEntries; j++)
{
entries.Add(reader.ReadString());
}
geneSymbolToJsonStrings[geneSymbol] = entries;
}
}
return(new NgaReader(version, jsonKey, isArray, geneSymbolToJsonStrings));
}
public NsaIndex(Stream stream)
{
using (var memStream = new MemoryStream())
using (var memReader = new ExtendedBinaryReader(memStream))
{
stream.CopyTo(memStream);//reading all bytes in stream to memStream
memStream.Position = 0;
Assembly = (GenomeAssembly)memReader.ReadByte();
Version = DataSourceVersion.Read(memReader);
JsonKey = memReader.ReadAsciiString();
MatchByAllele = memReader.ReadBoolean();
IsArray = memReader.ReadBoolean();
SchemaVersion = memReader.ReadOptInt32();
IsPositional = memReader.ReadBoolean();
var chromCount = memReader.ReadOptInt32();
_chromBlocks = new Dictionary <ushort, List <NsaIndexBlock> >(chromCount);
for (var i = 0; i < chromCount; i++)
{
var chromIndex = memReader.ReadOptUInt16();
var chunkCount = memReader.ReadOptInt32();
_chromBlocks[chromIndex] = new List <NsaIndexBlock>(chunkCount);
for (var j = 0; j < chunkCount; j++)
{
_chromBlocks[chromIndex].Add(new NsaIndexBlock(memReader));
}
}
}
}
public ChunkedIndex(Stream stream)
{
//reading the index in one shot
var buffer = new byte[1048576];
var indexLength = stream.Read(buffer, 0, 1048576);
using (var memStream = new MemoryStream(buffer, 0, indexLength))
using (var memReader = new ExtendedBinaryReader(memStream))
{
Assembly = (GenomeAssembly)memReader.ReadByte();
Version = DataSourceVersion.Read(memReader);
JsonKey = memReader.ReadAsciiString();
MatchByAllele = memReader.ReadBoolean();
IsArray = memReader.ReadBoolean();
SchemaVersion = memReader.ReadOptInt32();
IsPositional = memReader.ReadBoolean();
var chromCount = memReader.ReadOptInt32();
_chromChunks = new Dictionary <ushort, List <Chunk> >(chromCount);
for (var i = 0; i < chromCount; i++)
{
var chromIndex = memReader.ReadOptUInt16();
var chunkCount = memReader.ReadOptInt32();
_chromChunks[chromIndex] = new List <Chunk>(chunkCount);
for (var j = 0; j < chunkCount; j++)
{
_chromChunks[chromIndex].Add(new Chunk(memReader));
}
}
}
}
public void ReadItems_EndToEnd()
{
var expectedStrings = new[] { "Huey", "Duey", "Louie" };
string[] observedStrings;
using (var ms = new MemoryStream())
{
// ReSharper disable AccessToDisposedClosure
using (var writer = new ExtendedBinaryWriter(ms, Encoding.UTF8, true))
{
TranscriptCacheWriter.WriteItems(writer, expectedStrings, x => writer.WriteOptAscii(x));
}
ms.Position = 0;
using (var reader = new ExtendedBinaryReader(ms))
{
observedStrings = TranscriptCacheReader.ReadItems(reader, () => reader.ReadAsciiString());
}
// ReSharper restore AccessToDisposedClosure
}
Assert.NotNull(observedStrings);
Assert.Equal(expectedStrings, observedStrings);
}
public static IRnaEdit Read(ExtendedBinaryReader reader)
{
int start = reader.ReadOptInt32();
int end = reader.ReadOptInt32();
string bases = reader.ReadAsciiString();
return(new RnaEdit(start, end, bases));
}
// ReSharper disable once UnusedParameter.Local
// ReSharper disable once ParameterOnlyUsedForPreconditionCheck.Local
private static void CheckString(ExtendedBinaryReader reader, string expectedString)
{
string s = reader.ReadAsciiString();
Assert.NotNull(s);
Assert.Equal(expectedString.Length, s.Length);
Assert.Equal(expectedString, s);
}
public ClinVarItem(ExtendedBinaryReader reader)
{
_alleleOrigins = reader.ReadOptArray(reader.ReadAsciiString)?.ToList();
SaAltAllele = reader.ReadAsciiString();
AltAllele = SaAltAllele != null?SupplementaryAnnotationUtilities.ReverseSaReducedAllele(SaAltAllele) : ""; // A
ReferenceAllele = reader.ReadAsciiString();
ID = reader.ReadAsciiString();
ReviewStatus = (ReviewStatusEnum)reader.ReadByte();
IsAlleleSpecific = reader.ReadAsciiString();
_medgenIds = reader.ReadOptArray(reader.ReadAsciiString)?.ToList();
_omimIds = reader.ReadOptArray(reader.ReadAsciiString)?.ToList();
_orphanetIds = reader.ReadOptArray(reader.ReadAsciiString)?.ToList();
_phenotypes = reader.ReadOptArray(reader.ReadUtf8String)?.ToList();
Significance = reader.ReadAsciiString();
LastUpdatedDate = reader.ReadOptInt64();
_pubmedIds = reader.ReadOptArray(reader.ReadOptInt64)?.ToList();
}
public static TranscriptConservationScores Read(ExtendedBinaryReader reader)
{
var id = reader.ReadAsciiString();
var count = reader.ReadOptInt32();
var scores = reader.ReadBytes(count);
var item = new TranscriptConservationScores(id, scores);
return(item.IsEmpty() ? null : item);
}
public static void Read(ExtendedBinaryReader reader, SupplementaryAnnotationPosition sa)
{
sa.GlobalMinorAllele = reader.ReadAsciiString();
sa.GlobalMinorAlleleFrequency = reader.ReadAsciiString();
sa.GlobalMajorAllele = reader.ReadAsciiString();
sa.GlobalMajorAlleleFrequency = reader.ReadAsciiString();
// read the allele-specific records
var numAlleles = reader.ReadOptInt32();
for (var alleleIndex = 0; alleleIndex < numAlleles; alleleIndex++)
{
var allele = reader.ReadAsciiString();
var asa = AlleleSpecificAnnotation.Read(reader);
sa.AlleleSpecificAnnotations[allele] = asa;
}
// read cosmic records
var numCosmic = reader.ReadOptInt32();
for (var i = 0; i < numCosmic; i++)
{
var cosmicItem = new CosmicItem(reader);
sa.CosmicItems.Add(cosmicItem);
}
// read clinVar items
var numClinVar = reader.ReadOptInt32();
for (var i = 0; i < numClinVar; i++)
{
var clinVarItem = new ClinVarItem(reader);
sa.ClinVarItems.Add(clinVarItem);
}
// read custom annotation items
var numCustom = reader.ReadOptInt32();
for (var i = 0; i < numCustom; i++)
{
var customItem = new CustomItem(reader);
sa.CustomItems.Add(customItem);
}
}
private static List <string> ReadStringLists(ExtendedBinaryReader reader, int count)
{
var values = new List <string>();
for (var i = 0; i < count; i++)
{
values.Add(reader.ReadAsciiString());
}
return(values);
}
/// <summary>
/// checks if the footer is good
/// </summary>
private void CheckFooter()
{
const string expectedFooter = "EOF";
var footer = _reader.ReadAsciiString();
if (footer != expectedFooter)
{
throw new GeneralException($"The footer check failed for the OMIM databses ({_omimFile}): ID: exp: {expectedFooter} obs: {footer}");
}
}
public static Phenotype ReadPhenotype(ExtendedBinaryReader reader)
{
var mimNumber = reader.ReadOptInt32();
var phenotype = reader.ReadAsciiString();
var mapping = (Mapping)reader.ReadByte();
var comments = (Comments)reader.ReadByte();
var inheritance = reader.ReadOptArray(reader.ReadAsciiString);
var inheritances = inheritance == null ? null : new HashSet <string>(inheritance);
return(new Phenotype(mimNumber, phenotype, mapping, comments, inheritances));
}
/// <summary>
/// parses the database cache file and populates the specified lists and interval trees
/// </summary>
public TranscriptCacheData Read(IDictionary <ushort, IChromosome> refIndexToChromosome)
{
var genes = ReadItems(_reader, () => Gene.Read(_reader, refIndexToChromosome));
var transcriptRegions = ReadItems(_reader, () => TranscriptRegion.Read(_reader));
var mirnas = ReadItems(_reader, () => Interval.Read(_reader));
var peptideSeqs = ReadItems(_reader, () => _reader.ReadAsciiString());
var regulatoryRegions = ReadIntervals(_reader, () => RegulatoryRegion.Read(_reader, refIndexToChromosome));
var transcripts = ReadIntervals(_reader, () => Transcript.Read(_reader, refIndexToChromosome, genes, transcriptRegions, mirnas, peptideSeqs));
return(new TranscriptCacheData(Header, genes, transcriptRegions, mirnas, peptideSeqs, transcripts, regulatoryRegions));
}
private string[] ReadStringArray()
{
var numStrings = _reader.ReadOptInt32();
var strings = new string[numStrings];
for (int i = 0; i < numStrings; i++)
{
strings[i] = _reader.ReadAsciiString();
}
CheckGuard();
return(strings);
}
public NsiReader(Stream stream)
{
_stream = stream;
var compressData = new byte[MaxStreamLength];
int length = stream.Read(compressData, 0, MaxStreamLength);
//uncompress
var zstd = new Zstandard();
var decompressedLength = zstd.GetDecompressedLength(compressData, length);
var decompressedData = new byte[decompressedLength];
zstd.Decompress(compressData, length, decompressedData, decompressedLength);
using (var memStream = new MemoryStream(decompressedData, 0, decompressedLength))
using (var memReader = new ExtendedBinaryReader(memStream))
{
Version = DataSourceVersion.Read(memReader);
Assembly = (GenomeAssembly)memReader.ReadByte();
JsonKey = memReader.ReadAsciiString();
ReportFor = (ReportFor)memReader.ReadByte();
int schemaVersion = memReader.ReadOptInt32();
if (schemaVersion != SaCommon.SchemaVersion)
{
throw new UserErrorException($"Schema version mismatch!! Expected {SaCommon.SchemaVersion}, observed {schemaVersion} for {JsonKey}");
}
int count = memReader.ReadOptInt32();
var suppIntervals = new Dictionary <ushort, List <Interval <string> > >();
for (var i = 0; i < count; i++)
{
var saInterval = new SuppInterval(memReader);
if (suppIntervals.TryGetValue(saInterval.Chromosome.Index, out var intervals))
{
intervals.Add(new Interval <string>(saInterval.Start, saInterval.End, saInterval.GetJsonString()));
}
else
{
suppIntervals[saInterval.Chromosome.Index] = new List <Interval <string> > {
new Interval <string>(saInterval.Start, saInterval.End, saInterval.GetJsonString())
}
};
}
_intervalArrays = new Dictionary <ushort, IntervalArray <string> >(suppIntervals.Count);
foreach ((ushort chromIndex, List <Interval <string> > intervals) in suppIntervals)
{
_intervalArrays[chromIndex] = new IntervalArray <string>(intervals.ToArray());
}
}
}
/// <summary>
/// reads the gene data from the binary reader
/// </summary>
public static Gene Read(ExtendedBinaryReader reader)
{
ushort referenceIndex = reader.ReadUInt16();
int start = reader.ReadOptInt32();
int end = reader.ReadOptInt32();
bool onReverseStrand = reader.ReadBoolean();
string symbol = reader.ReadAsciiString();
int hgncId = reader.ReadOptInt32();
var entrezId = CompactId.Read(reader);
var ensemblId = CompactId.Read(reader);
int mimNumber = reader.ReadOptInt32();
return(new Gene(referenceIndex, start, end, onReverseStrand, symbol, hgncId, entrezId, ensemblId, mimNumber));
}
public JasixIndex(Stream stream) : this()
{
_stream = stream;
using (var reader = new ExtendedBinaryReader(stream))
{
int version = reader.ReadOptInt32();
if (version != JasixCommons.Version)
{
throw new InvalidDataException($"Invalid Jasix version: Observed {version}, expected{JasixCommons.Version}");
}
int count = reader.ReadOptInt32();
for (var i = 0; i < count; i++)
{
var chrIndex = new JasixChrIndex(reader);
_chrIndices[chrIndex.ReferenceSequence] = chrIndex;
}
int synonymCount = reader.ReadOptInt32();
for (var i = 0; i < synonymCount; i++)
{
string synonym = reader.ReadAsciiString();
string indexName = reader.ReadAsciiString();
_synonymToChrName[synonym] = indexName;
}
int sectionCount = reader.ReadOptInt32();
for (var i = 0; i < sectionCount; i++)
{
string sectionName = reader.ReadAsciiString();
long begin = reader.ReadOptInt64();
long end = reader.ReadOptInt64();
_sectionRanges[sectionName] = new FileRange(begin, end);
}
}
}
private static Band[] GetCytogeneticBands(ExtendedBinaryReader reader)
{
int numBands = reader.ReadOptInt32();
var bands = new Band[numBands];
for (var i = 0; i < numBands; i++)
{
int begin = reader.ReadOptInt32();
int end = reader.ReadOptInt32();
string name = reader.ReadAsciiString();
bands[i] = new Band(begin, end, name);
}
return(bands);
}
