[9b26b7]: / third_party / nucleus / io / vcf_writer.cc

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/*
* Copyright 2018 Google LLC.
*
* Redistribution and use in source and binary forms, with or without
* modification, are permitted provided that the following conditions
* are met:
*
* 1. Redistributions of source code must retain the above copyright notice,
* this list of conditions and the following disclaimer.
*
* 2. Redistributions in binary form must reproduce the above copyright
* notice, this list of conditions and the following disclaimer in the
* documentation and/or other materials provided with the distribution.
*
* 3. Neither the name of the copyright holder nor the names of its
* contributors may be used to endorse or promote products derived from this
* software without specific prior written permission.
*
* THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND CONTRIBUTORS "AS IS"
* AND ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT LIMITED TO, THE
* IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE
* ARE DISCLAIMED. IN NO EVENT SHALL THE COPYRIGHT HOLDER OR CONTRIBUTORS BE
* LIABLE FOR ANY DIRECT, INDIRECT, INCIDENTAL, SPECIAL, EXEMPLARY, OR
* CONSEQUENTIAL DAMAGES (INCLUDING, BUT NOT LIMITED TO, PROCUREMENT OF
* SUBSTITUTE GOODS OR SERVICES; LOSS OF USE, DATA, OR PROFITS; OR BUSINESS
* INTERRUPTION) HOWEVER CAUSED AND ON ANY THEORY OF LIABILITY, WHETHER IN
* CONTRACT, STRICT LIABILITY, OR TORT (INCLUDING NEGLIGENCE OR OTHERWISE)
* ARISING IN ANY WAY OUT OF THE USE OF THIS SOFTWARE, EVEN IF ADVISED OF THE
* POSSIBILITY OF SUCH DAMAGE.
*
*/
// Implementation of vcf_writer.h
#include "third_party/nucleus/io/vcf_writer.h"
#include <array>
#include <cmath>
#include <string>
#include <utility>
#include <vector>
#include "absl/log/check.h"
#include "absl/memory/memory.h"
#include "absl/strings/substitute.h"
#include "htslib/hts.h"
#include "htslib/sam.h"
#include "third_party/nucleus/core/status.h"
#include "third_party/nucleus/io/hts_path.h"
#include "third_party/nucleus/io/vcf_conversion.h"
#include "third_party/nucleus/protos/reference.pb.h"
#include "third_party/nucleus/protos/variants.pb.h"
#include "third_party/nucleus/util/utils.h"
#include "google/protobuf/map.h"
#include "google/protobuf/repeated_field.h"
namespace nucleus {
using nucleus::genomics::v1::Variant;
namespace {
// Modes used to write a htsFile. See hts_open in hts.h for more info.
constexpr char kBCFOpenModeCompressed[] = "wb";
constexpr char kBCFOpenModeUncompressed[] = "wbu";
constexpr char kOpenModeCompressed[] = "wz";
constexpr char kOpenModeUncompressed[] = "w";
// RAII wrapper on top of bcf1_t* to always perform cleanup.
class BCFRecord {
public:
BCFRecord() : bcf1_(bcf_init()) {}
~BCFRecord() {
if (bcf1_) {
bcf_destroy(bcf1_);
}
}
// Disable copy or assignment
BCFRecord(const BCFRecord& other) = delete;
BCFRecord& operator=(const BCFRecord&) = delete;
bcf1_t* get_bcf1() { return bcf1_; }
private:
bcf1_t* bcf1_;
};
} // namespace
StatusOr<std::unique_ptr<VcfWriter>> VcfWriter::ToFile(
const string& variants_path, const nucleus::genomics::v1::VcfHeader& header,
const nucleus::genomics::v1::VcfWriterOptions& options) {
const char* const open_mode = GetOpenMode(variants_path);
htsFile* fp = hts_open_x(variants_path, open_mode);
if (fp == nullptr) {
return ::nucleus::Unknown(
absl ::StrCat("Could not open variants_path: ", variants_path));
}
auto writer = absl::WrapUnique(new VcfWriter(header, options, fp));
NUCLEUS_RETURN_IF_ERROR(writer->WriteHeader());
return std::move(writer);
}
VcfWriter::VcfWriter(const nucleus::genomics::v1::VcfHeader& header,
const nucleus::genomics::v1::VcfWriterOptions& options,
htsFile* fp)
: fp_(fp),
options_(options),
vcf_header_(header),
record_converter_(
vcf_header_,
std::vector<string>(options_.excluded_info_fields().begin(),
options_.excluded_info_fields().end()),
std::vector<string>(options_.excluded_format_fields().begin(),
options_.excluded_format_fields().end()),
options_.retrieve_gl_and_pl_from_info_map()) {
CHECK(fp != nullptr);
NUCLEUS_CHECK_OK(VcfHeaderConverter::ConvertFromPb(vcf_header_, &header_));
}
::nucleus::Status VcfWriter::WriteHeader() {
if (options_.exclude_header()) {
return ::nucleus::Status();
}
if (bcf_hdr_write(fp_, header_) < 0) {
return ::nucleus::Unknown("Failed to write header");
}
return ::nucleus::Status();
}
VcfWriter::~VcfWriter() {
if (fp_) {
// There's nothing we can do but assert fail if there's an error during
// the Close() call here.
NUCLEUS_CHECK_OK(Close());
}
}
// Helper functions for somatic processing.
namespace {
// Return genotype as a string, ex "00", "-1-1".
std::string GetVariantGenotype(const Variant& variant) {
CHECK_EQ(variant.calls_size(), 1);
std::string ret;
for (const int genotype : variant.calls(0).genotype()) {
ret += std::to_string(genotype);
}
return ret;
}
// Set genotype field of Variant proto.
void SetVariantGenotype(const std::array<int, 2> genotype,
Variant* mutable_variant) {
mutable_variant->mutable_calls(0)->mutable_genotype()->Clear();
for (auto gt : genotype) {
mutable_variant->mutable_calls(0)->mutable_genotype()->Add(gt);
}
}
} // namespace
::nucleus::Status VcfWriter::WriteSomatic(const Variant& variant_message) {
Variant variant_message_mutable(variant_message);
auto original_genotype = GetVariantGenotype(variant_message);
if (original_genotype != "00" && original_genotype != "-1-1" &&
original_genotype != "11") {
SetVariantGenotype({0, 0}, &variant_message_mutable);
// Only replace filter with the GERMLINE if it is not empty (.)
if (!variant_message_mutable.filter().empty()) {
variant_message_mutable.mutable_filter()->Clear();
variant_message_mutable.mutable_filter()->Add("GERMLINE");
}
}
return Write(variant_message_mutable);
}
::nucleus::Status VcfWriter::Write(const Variant& variant_message) {
if (fp_ == nullptr)
return ::nucleus::FailedPrecondition("Cannot write to closed VCF stream.");
BCFRecord v;
if (v.get_bcf1() == nullptr) {
return ::nucleus::Unknown("bcf_init call failed");
}
NUCLEUS_RETURN_IF_ERROR(
RecordConverter().ConvertFromPb(variant_message, *header_, v.get_bcf1()));
if (options_.round_qual_values() &&
!bcf_float_is_missing(v.get_bcf1()->qual)) {
// Round quality value printed out to one digit past the decimal point.
double rounded_quality = floor(variant_message.quality() * 10 + 0.5) / 10;
v.get_bcf1()->qual = rounded_quality;
}
if (bcf_write(fp_, header_, v.get_bcf1()) != 0) {
return ::nucleus::Unknown("bcf_write call failed");
}
return ::nucleus::Status();
}
::nucleus::Status VcfWriter::Close() {
if (fp_ == nullptr)
return ::nucleus::FailedPrecondition(
"Cannot close an already closed VcfWriter");
if (hts_close(fp_) < 0) return ::nucleus::Unknown("hts_close call failed");
fp_ = nullptr;
bcf_hdr_destroy(header_);
header_ = nullptr;
return ::nucleus::Status();
}
// static
const char* VcfWriter::GetOpenMode(const string& file_path) {
if (EndsWith(file_path, ".bcf")) {
return kBCFOpenModeUncompressed;
} else if (EndsWith(file_path, ".bcf.gz")) {
return kBCFOpenModeCompressed;
} else if (EndsWith(file_path, ".gz")) {
return kOpenModeCompressed;
}
return kOpenModeUncompressed;
}
} // namespace nucleus