[9b26b7]: / third_party / nucleus / io / vcf_reader_test.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.
*
*/
#include "third_party/nucleus/io/vcf_reader.h"
#include <stddef.h>
#include <utility>
#include <vector>
#include <gmock/gmock-generated-matchers.h>
#include <gmock/gmock-matchers.h>
#include <gmock/gmock-more-matchers.h>
#include "tensorflow/core/platform/test.h"
#include "third_party/nucleus/protos/struct.pb.h"
#include "third_party/nucleus/protos/variants.pb.h"
#include "third_party/nucleus/testing/protocol-buffer-matchers.h"
#include "third_party/nucleus/testing/test_utils.h"
#include "third_party/nucleus/util/utils.h"
#include "third_party/nucleus/core/status_matchers.h"
#include "google/protobuf/map.h"
#include "google/protobuf/repeated_field.h"
#include "tensorflow/core/lib/core/status.h"
namespace nucleus {
using std::vector;
using ::testing::Eq;
using ::testing::Not;
using ::testing::Pointwise;
using ::testing::SizeIs;
using nucleus::genomics::v1::Variant;
using nucleus::proto::IgnoringFieldPaths;
// These files are made using the Verily converter. See:
// g3doc/learning/genomics/g3doc/variant-encoding.md
constexpr char kVcfSamplesFilename[] = "test_samples.vcf";
constexpr char kVcfIndexSamplesFilename[] = "test_samples.vcf.gz";
constexpr char kVcfSamplesGoldenFilename[] = "test_samples.vcf.golden.tfrecord";
constexpr char kVcfSitesFilename[] = "test_sites.vcf";
constexpr char kVcfSitesGoldenFilename[] = "test_sites.vcf.golden.tfrecord";
/* These are made using our own converter, vcf_to_tfrecord, for example:
TESTDATA=./core/testdata
blaze run -c opt internal:vcf_to_tfrecord -- \
--input=$(pwd)/$TESTDATA/test_likelihoods_input.vcf \
--output=$(pwd)/$TESTDATA/test_likelihoods.vcf.golden.tfrecord
*/
constexpr char kValidVcfHeaderFilename[] = "test_valid_vcf_header_parsing.vcf";
constexpr char kVcfNoHeaderFilename[] = "vcf_no_header.vcf";
constexpr char kInvalidVcfHeaderFilename[] =
"test_invalid_vcf_header_parsing.vcf";
constexpr char kVcfLikelihoodsFilename[] = "test_likelihoods_input.vcf";
constexpr char kVcfLikelihoodsGoldenFilename[] = "test_likelihoods.vcf.golden.tfrecord"; // NOLINT
constexpr char kVcfPhasesetFilename[] = "test_phaseset.vcf";
constexpr char kVcfPhasesetGoldenFilename[] = "test_phaseset.vcf.golden.tfrecord"; // NOLINT
constexpr char kVcfAlleleDepthFilename[] = "test_allele_depth.vcf";
constexpr char kVcfAlleleDepthGoldenFilename[] = "test_allele_depth.vcf.golden.tfrecord"; // NOLINT
constexpr char kVcfVariantAlleleFrequencyFilename[] = "test_vaf.vcf";
constexpr char kVcfVariantAlleleFrequencyGoldenFilename[] = "test_vaf.vcf.golden.tfrecord"; // NOLINT
constexpr char kRedefinedFormatFilename[] = "test_redefined_formats.vcf";
constexpr int CHR1_SIZE = 248956422;
constexpr int CHR2_SIZE = 242193529;
constexpr int CHR3_SIZE = 198295559;
constexpr int CHRX_SIZE = 156040895;
void AddTestContig(nucleus::genomics::v1::VcfHeader& header, const string& name,
const string& description = "", const int n_bases = 0,
const int pos_in_fasta = 0,
const std::vector<string>& kvExtra = {}) {
nucleus::genomics::v1::ContigInfo* contig = header.add_contigs();
contig->set_name(name);
contig->set_description(description);
contig->set_n_bases(n_bases);
contig->set_pos_in_fasta(pos_in_fasta);
for (size_t i = 0; i < kvExtra.size(); i += 2) {
(*contig->mutable_extra())[kvExtra[i]] = kvExtra[i + 1];
}
}
void AddTestFilter(nucleus::genomics::v1::VcfHeader& header, const string& id,
const string& description = "") {
nucleus::genomics::v1::VcfFilterInfo* filter = header.add_filters();
filter->set_id(id);
filter->set_description(description);
}
void AddTestInfo(nucleus::genomics::v1::VcfHeader& header, const string& id,
const string& number, const string& type,
const string& description, const string& source = "",
const string& version = "") {
nucleus::genomics::v1::VcfInfo* info = header.add_infos();
info->set_id(id);
info->set_number(number);
info->set_type(type);
info->set_description(description);
info->set_source(source);
info->set_version(version);
}
void AddTestFormat(nucleus::genomics::v1::VcfHeader& header, const string& id,
const string& number, const string& type,
const string& description) {
nucleus::genomics::v1::VcfFormatInfo* format = header.add_formats();
format->set_id(id);
format->set_number(number);
format->set_type(type);
format->set_description(description);
}
void AddTestStructuredExtra(nucleus::genomics::v1::VcfHeader& header,
const string& key,
const std::vector<string>& extra_pairs) {
nucleus::genomics::v1::VcfStructuredExtra* extra =
header.add_structured_extras();
extra->set_key(key);
for (size_t i = 0; i < extra_pairs.size(); i += 2) {
nucleus::genomics::v1::VcfExtra& toAdd = *extra->mutable_fields()->Add();
toAdd.set_key(extra_pairs[i]);
toAdd.set_value(extra_pairs[i + 1]);
}
}
void AddTestExtra(nucleus::genomics::v1::VcfHeader& header, const string& key,
const string& value) {
nucleus::genomics::v1::VcfExtra* extra = header.add_extras();
extra->set_key(key);
extra->set_value(value);
}
TEST(VcfReaderTest, FromFileWithHeader) {
std::unique_ptr<VcfReader> reader_with_header =
std::move(VcfReader::FromFile(GetTestData(kVcfSitesFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
std::unique_ptr<VcfReader> reader = std::move(
VcfReader::FromFileWithHeader(GetTestData(kVcfNoHeaderFilename),
nucleus::genomics::v1::VcfReaderOptions(),
reader_with_header->Header())
.ValueOrDie());
EXPECT_THAT(reader->Header(), EqualsProto(reader_with_header->Header()));
vector<Variant> expected = as_vector(reader_with_header->Iterate());
EXPECT_THAT(as_vector(reader->Iterate()), Pointwise(EqualsProto(), expected));
}
// Fails when a VcfHeader is specified and the vcf file already has a header.
TEST(VcfReaderTest, FromFileWithHeaderFailure) {
std::unique_ptr<VcfReader> header_reader =
std::move(VcfReader::FromFile(GetTestData(kVcfSitesFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
StatusOr<std::unique_ptr<VcfReader>> status_or =
VcfReader::FromFileWithHeader(GetTestData(kVcfSitesFilename),
nucleus::genomics::v1::VcfReaderOptions(),
header_reader->Header());
EXPECT_THAT(status_or, IsNotOKWithMessage("Unexpected header in"));
}
TEST(ValidVcfHeaderParsing, MatchesProto) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(GetTestData(kValidVcfHeaderFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
nucleus::genomics::v1::VcfHeader header_proto;
header_proto.set_fileformat("VCFv4.2");
AddTestFilter(header_proto, "PASS", "All filters passed");
AddTestInfo(header_proto, "DP", "1", "Integer",
"Read depth of all samples summed together.");
AddTestInfo(header_proto, "DB", "0", "Flag", "dbSNP membership", "dbSNP",
"build 129");
AddTestFormat(header_proto, "GT", "1", "String", "Genotype");
AddTestFormat(header_proto, "GQ", "1", "Integer", "Genotype Quality");
AddTestFormat(header_proto, "AD", "R", "Integer",
"Read depth of all passing filters reads for each allele.");
AddTestFormat(header_proto, "GL", "G", "Float",
"Genotype likelihoods, log10 encoded");
AddTestFormat(header_proto, "CH", "1", "Character", "Character FORMAT field");
AddTestFormat(header_proto, "FU", ".", "String",
"Multiple Strings FORMAT field");
AddTestFormat(header_proto, "F2", "2", "Character",
"2 Characters FORMAT field");
AddTestContig(header_proto, "Chr1", "", 50);
AddTestContig(header_proto, "chr2", "", 81195210, 1,
{"URL", "ftp://somewhere.org/assembly.fa", "md5", "fakemd5",
"species", "Homo sapiens"});
AddTestStructuredExtra(header_proto, "META",
{"ID", "Assay", "Type", "String", "Number", ".",
"Values", "[WholeGenome, Exome]"});
AddTestStructuredExtra(
header_proto, "PEDIGREE",
{"Name_0", "G0-ID", "Name_1", "G1-ID", "Name_3", "GN-ID"});
AddTestExtra(header_proto, "pedigreeDB", "http://url.to.pedigre.es/search");
header_proto.add_sample_names("Fido");
header_proto.add_sample_names("Spot");
EXPECT_THAT(reader->Header(), EqualsProto(header_proto));
vector<Variant> actual = as_vector(reader->Iterate());
ASSERT_EQ(2u, actual.size());
Variant expected;
expected.set_reference_name("Chr1");
expected.set_start(20);
expected.set_end(21);
expected.add_names("DogSNP1");
expected.set_reference_bases("A");
expected.add_alternate_bases("T");
nucleus::genomics::v1::Value* val;
{
nucleus::genomics::v1::VariantCall* call1 = expected.add_calls();
call1->set_call_set_name("Fido");
call1->add_genotype(0);
call1->add_genotype(1);
nucleus::genomics::v1::ListValue lv;
val = lv.add_values();
val->set_string_value("a1");
val = lv.add_values();
val->set_string_value("b1");
(*call1->mutable_info())["FU"] = lv;
nucleus::genomics::v1::ListValue lv2;
val = lv2.add_values();
val->set_string_value("a");
val = lv2.add_values();
val->set_string_value("b");
(*call1->mutable_info())["F2"] = lv2;
}
{
nucleus::genomics::v1::VariantCall* call2 = expected.add_calls();
call2->set_call_set_name("Spot");
call2->add_genotype(0);
call2->add_genotype(1);
nucleus::genomics::v1::ListValue lv;
val = lv.add_values();
val->set_int_value(42);
(*call2->mutable_info())["GQ"] = lv;
nucleus::genomics::v1::ListValue lv2;
val = lv2.add_values();
val->set_string_value("c1");
val = lv2.add_values();
val->set_string_value("d1");
(*call2->mutable_info())["FU"] = lv2;
nucleus::genomics::v1::ListValue lv3;
val = lv3.add_values();
val->set_string_value("c");
val = lv3.add_values();
val->set_string_value("d");
(*call2->mutable_info())["F2"] = lv3;
}
// Ignore record-level info fields (DP and DB).
actual[0].clear_info();
EXPECT_THAT(actual[0], EqualsProto(expected));
}
TEST(VcfFileOnlySites, IterationWorks) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(GetTestData(kVcfSitesFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
vector<Variant> golden =
ReadProtosFromTFRecord<Variant>(GetTestData(kVcfSitesGoldenFilename));
EXPECT_THAT(as_vector(reader->Iterate()), Pointwise(EqualsProto(), golden));
}
class VcfWithSamplesReaderTest : public ::testing::Test {
protected:
void SetUp() override {
indexed_vcf_ = GetTestData(kVcfIndexSamplesFilename);
golden_ =
ReadProtosFromTFRecord<Variant>(GetTestData(kVcfSamplesGoldenFilename));
RecreateReader();
}
void RecreateReader(
nucleus::genomics::v1::VcfReaderOptions* options_override = nullptr) {
nucleus::genomics::v1::VcfReaderOptions* options =
options_override ? options_override : &options_;
reader_ =
std::move(VcfReader::FromFile(indexed_vcf_, *options).ValueOrDie());
}
nucleus::genomics::v1::VcfReaderOptions options_;
string indexed_vcf_;
vector<Variant> golden_;
std::unique_ptr<VcfReader> reader_;
};
TEST_F(VcfWithSamplesReaderTest, IterationWorksWithoutIndex) {
// Checks that iterate() produces all of the variants in our golden file
// in order for an unindexed VCF file.
nucleus::genomics::v1::VcfReaderOptions options;
RecreateReader(&options);
EXPECT_THAT(
as_vector(reader_->Iterate()), Pointwise(EqualsProto(), golden_));
}
TEST_F(VcfWithSamplesReaderTest, IterationWorksWithIndex) {
// Checks that iterate() produces all of the variants in our golden file
// in order for an indexed VCF file.
EXPECT_THAT(as_vector(reader_->Iterate()), Pointwise(EqualsProto(), golden_));
}
TEST_F(VcfWithSamplesReaderTest, FilteringInfoFieldsWorks) {
// Checks that iterate() filters FORMAT fields out as we expect.
nucleus::genomics::v1::VcfReaderOptions options;
RecreateReader(&options);
std::vector<Variant> all_infos = as_vector(reader_->Iterate());
// No genotype (a special-cased field in all records in the test data).
options.add_excluded_info_fields("AC");
RecreateReader(&options);
std::vector<Variant> no_ac = as_vector(reader_->Iterate());
// Cut the golden data down to the first 700 records that all contain AC
// so that pointwise comparisons work.
int numRecordsToCompare = 700;
golden_.resize(numRecordsToCompare);
all_infos.resize(numRecordsToCompare);
no_ac.resize(numRecordsToCompare);
EXPECT_THAT(all_infos, Pointwise(EqualsProto(), golden_));
EXPECT_THAT(no_ac, Pointwise(Not(EqualsProto()), golden_));
EXPECT_THAT(no_ac,
Pointwise(IgnoringFieldPaths({"info"}, EqualsProto()), golden_));
}
TEST_F(VcfWithSamplesReaderTest, FilteringFormatFieldsWorks) {
// Checks that iterate() filters FORMAT fields out as we expect.
nucleus::genomics::v1::VcfReaderOptions options;
RecreateReader(&options);
std::vector<Variant> all_formats = as_vector(reader_->Iterate());
// No genotype (a special-cased field in all records in the test data).
options.add_excluded_format_fields("GT");
RecreateReader(&options);
std::vector<Variant> no_genotype = as_vector(reader_->Iterate());
// No GQ (a normal FORMAT field set in all records in the test data).
options.Clear();
options.add_excluded_format_fields("GQ");
RecreateReader(&options);
std::vector<Variant> no_gq = as_vector(reader_->Iterate());
// No genotype or GQ.
options.Clear();
options.add_excluded_format_fields("GT");
options.add_excluded_format_fields("GQ");
RecreateReader(&options);
std::vector<Variant> no_gt_or_gq = as_vector(reader_->Iterate());
EXPECT_THAT(all_formats, Pointwise(EqualsProto(), golden_));
EXPECT_THAT(no_genotype, Pointwise(Not(EqualsProto()), golden_));
EXPECT_THAT(no_genotype,
Pointwise(IgnoringFieldPaths({"calls.genotype"}, EqualsProto()),
golden_));
EXPECT_THAT(no_gq, Pointwise(Not(EqualsProto()), golden_));
EXPECT_THAT(
no_gq,
Pointwise(IgnoringFieldPaths({"calls.info"}, EqualsProto()), golden_));
EXPECT_THAT(no_gt_or_gq, Pointwise(Not(EqualsProto()), golden_));
EXPECT_THAT(no_gt_or_gq,
Pointwise(Not(IgnoringFieldPaths({"calls.info"}, EqualsProto())),
golden_));
EXPECT_THAT(
no_gt_or_gq,
Pointwise(Not(IgnoringFieldPaths({"calls.genotype"}, EqualsProto())),
golden_));
EXPECT_THAT(no_gt_or_gq,
Pointwise(IgnoringFieldPaths({"calls.genotype", "calls.info"},
EqualsProto()),
golden_));
}
TEST_F(VcfWithSamplesReaderTest, QueryWorks) {
// Get all of the variants on chr1 from golden.
vector<Variant> subgolden;
for (Variant& v : golden_) {
if (v.reference_name() == "chr1")
subgolden.push_back(v);
}
// Compare the chr1 golden variants to those we get from Query.
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr1", 0, CHR1_SIZE))),
Pointwise(EqualsProto(), subgolden));
}
TEST_F(VcfWithSamplesReaderTest, QueryRangesIsCorrect) {
// There's a variant at chr3:14319, test that query works exactly.
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 14318, 14319))),
SizeIs(1));
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 14317, 14318))),
SizeIs(0));
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 14319, 14320))),
SizeIs(0));
// Starts one before, runs to one after, so we get it.
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 14317, 14319))),
SizeIs(1));
// Starts 100 bp before and runs to 100 bp after, so we get it.
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 14217, 14419))),
SizeIs(1));
// End is far enough to grab a few more variants.
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 14318, 60000))),
SizeIs(2));
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 99999, 500000))),
SizeIs(4));
// There aren't any variants on the valid contig "chr4".
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr4", 9999, 50000))),
SizeIs(0));
}
TEST_F(VcfWithSamplesReaderTest, WholeChromosomeQueries) {
// Test a bunch of misc. queries.
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr1", 0, CHR1_SIZE))),
SizeIs(711));
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr2", 0, CHR2_SIZE))),
SizeIs(34));
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chr3", 0, CHR3_SIZE))),
SizeIs(6));
EXPECT_THAT(as_vector(reader_->Query(MakeRange("chrX", 0, CHRX_SIZE))),
SizeIs(2));
}
TEST(VcfReaderLikelihoodsTest, MatchesGolden) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(GetTestData(kVcfLikelihoodsFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
vector<Variant> golden = ReadProtosFromTFRecord<Variant>(
GetTestData(kVcfLikelihoodsGoldenFilename));
EXPECT_THAT(as_vector(reader->Iterate()), Pointwise(EqualsProto(), golden));
}
TEST(VcfReaderPhasesetTest, MatchesGolden) {
// Verify that we can still read the phaseset fields correctly.
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(GetTestData(kVcfPhasesetFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
vector<Variant> golden =
ReadProtosFromTFRecord<Variant>(GetTestData(kVcfPhasesetGoldenFilename));
EXPECT_THAT(as_vector(reader->Iterate()), Pointwise(EqualsProto(), golden));
}
TEST(VcfReaderAlleleDepthTest, MatchesGolden) {
// Verify that we can still read the AD and DP fields correctly.
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(GetTestData(kVcfAlleleDepthFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
vector<Variant> golden =
ReadProtosFromTFRecord<Variant>(
GetTestData(kVcfAlleleDepthGoldenFilename));
EXPECT_THAT(as_vector(reader->Iterate()), Pointwise(EqualsProto(), golden));
}
TEST(VcfReaderVariantAlleleFrequencyTest, MatchesGolden) {
// Verify that we can still read the VAF field correctly.
std::unique_ptr<VcfReader> reader = std::move(
VcfReader::FromFile(GetTestData(kVcfVariantAlleleFrequencyFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
vector<Variant> golden = ReadProtosFromTFRecord<Variant>(
GetTestData(kVcfVariantAlleleFrequencyGoldenFilename));
EXPECT_THAT(as_vector(reader->Iterate()), Pointwise(EqualsProto(), golden));
}
TEST(VcfReaderFromStringTest, MatchesGolden) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(
GetTestData(kVcfPhasesetFilename),
nucleus::genomics::v1::VcfReaderOptions()).ValueOrDie());
vector<Variant> golden =
ReadProtosFromTFRecord<Variant>(GetTestData(kVcfPhasesetGoldenFilename));
vector<Variant> parsed(5);
NUCLEUS_CHECK_OK(reader->FromString(
"Chr1\t21\tDogSNP1\tA\tT\t0\t.\t.\tGT:GQ\t0/1:.\t0/1:42", &(parsed[0])));
NUCLEUS_CHECK_OK(reader->FromString(
"Chr1\t22\tDogSNP2\tA\tT\t0\t.\t.\tGT:PL\t0/1:.\t0|1:50,40,60",
&(parsed[1])));
NUCLEUS_CHECK_OK(
reader->FromString("Chr1\t23\tDogSNP3\tA\tT\t0\t.\t.\tGT:GL:PS\t"
"0/1:.:.\t0/1:-5.0,-4.0,-6.0:.",
&(parsed[2])));
NUCLEUS_CHECK_OK(
reader->FromString("Chr1\t24\tDogSNP4\tA\tT\t0\t.\t.\tGT:PL:PS\t"
"0|1:50,40,60:24\t0|1:50,40,60:.",
&(parsed[3])));
NUCLEUS_CHECK_OK(
reader->FromString("Chr1\t25\tDogSNP5\ta\tt\t0\t.\t.\tGT:GQ:PS:PL\t"
"0|1:42:24:50,40,60\t1|1:42:.:50,40,60",
&(parsed[4])));
EXPECT_THAT(parsed, Pointwise(EqualsProto(), golden));
}
TEST(VcfReaderMultipleNamesTest, SplitsOnSemicolon) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(
GetTestData(kVcfPhasesetFilename),
nucleus::genomics::v1::VcfReaderOptions()).ValueOrDie());
Variant v;
NUCLEUS_CHECK_OK(reader->FromString(
"Chr1\t21\tDogSNP1;CatSNP2\tA\tT\t0\t.\t.\tGT:GQ\t0/1:.\t0/1:42", &v));
ASSERT_EQ(2, v.names_size());
EXPECT_EQ("DogSNP1", v.names(0));
EXPECT_EQ("CatSNP2", v.names(1));
}
TEST(VcfReaderDifferentPloidyTest, Simple) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(
GetTestData(kVcfPhasesetFilename),
nucleus::genomics::v1::VcfReaderOptions()).ValueOrDie());
Variant v;
NUCLEUS_CHECK_OK(reader->FromString(
"Chr1\t21\t.\tC\t<SYMBOLIC>\t49\t.\t.\tGT:PS:GQ\t0|1:1:45\t.:.:.", &v));
ASSERT_EQ(2, v.calls_size());
EXPECT_THAT(v.calls(0).genotype(), testing::ElementsAre(0, 1));
EXPECT_THAT(v.calls(1).genotype(), testing::ElementsAre(-1));
Variant v2;
NUCLEUS_CHECK_OK(reader->FromString(
"Chr1\t21\t.\tC\t<SYMBOLIC>\t49\t.\t.\tGT:PS:GQ\t0|1:1:45\t0:24:42",
&v2));
ASSERT_EQ(2, v2.calls_size());
EXPECT_THAT(v2.calls(0).genotype(), testing::ElementsAre(0, 1));
EXPECT_THAT(v2.calls(1).genotype(), testing::ElementsAre(0));
}
TEST(HandleRedefinedFormatFields, MatchesProto) {
nucleus::genomics::v1::VcfReaderOptions options;
options.set_store_gl_and_pl_in_info_map(true);
std::unique_ptr<VcfReader> reader = std::move(
VcfReader::FromFile(GetTestData(kRedefinedFormatFilename), options)
.ValueOrDie());
vector<Variant> actual = as_vector(reader->Iterate());
EXPECT_EQ(1, actual.size());
Variant expected;
expected.set_reference_name("Chr1");
expected.set_start(20);
expected.set_end(21);
expected.add_names("DogSNP1");
expected.set_reference_bases("A");
expected.add_alternate_bases("T");
expected.set_quality(10);
nucleus::genomics::v1::VariantCall* call1 = expected.add_calls();
call1->set_call_set_name("Fido");
call1->add_genotype(0);
call1->add_genotype(1);
nucleus::genomics::v1::VariantCall* call2 = expected.add_calls();
call2->set_call_set_name("Spot");
call2->add_genotype(0);
call2->add_genotype(1);
nucleus::genomics::v1::ListValue lv;
nucleus::genomics::v1::Value* val = lv.add_values();
val->set_int_value(42);
(*call2->mutable_info())["GL"] = lv;
EXPECT_THAT(actual[0], EqualsProto(expected));
}
// Tests that parsing succeeds even when undefined header fields (info, contig,
// filter and format) exist.
TEST(VcfReaderTest, MissingHeaderDefinitions) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(GetTestData(kVcfPhasesetFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
Variant v1;
// AB is an undefined FORMAT tag.
NUCLEUS_CHECK_OK(reader->FromString(
"Chr1\t21\tDogSNP1\tA\tT\t0\t.\t.\tGT:GQ:AB\t0/1:.:abc\t0/1:42:def",
&v1));
EXPECT_EQ("abc", v1.calls(0).info().at("AB").values(0).string_value());
EXPECT_EQ("def", v1.calls(1).info().at("AB").values(0).string_value());
Variant v2;
// q10 is an undefined FILTER tag.
NUCLEUS_CHECK_OK(reader->FromString(
"Chr1\t22\tDogSNP2\tA\tT\t0\tq10\t.\tGT:PL\t0/1:.\t0|1:50,40,60", &v2));
EXPECT_EQ("q10", v2.filter(0));
Variant v3;
// Chr2 is an undefined contig.
NUCLEUS_CHECK_OK(
reader->FromString("Chr2\t23\tDogSNP3\tA\tT\t0\t.\t.\tGT:GL:PS\t"
"0/1:.:.\t0/1:-5.0,-4.0,-6.0:.",
&v3));
EXPECT_EQ("Chr2", v3.reference_name());
}
TEST(VcfReaderTest, HeaderAccessor) {
std::unique_ptr<VcfReader> reader =
std::move(VcfReader::FromFile(GetTestData(kVcfSamplesFilename),
nucleus::genomics::v1::VcfReaderOptions())
.ValueOrDie());
// A test to make sure header's fields can be iterated in a loop.
for (const auto& name : reader->Header().sample_names()) {
EXPECT_FALSE(name.empty());
}
}
} // namespace nucleus