[9b26b7]: / deepvariant / merge_phased_reads.cc

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/*
* Copyright 2023 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.
*/
// This utility is used to merge phased reads from different shards.
// We can find a consistent phasing if there are reads that overlap multiple
// shards. Please note, that input file must be local, this utility does not
// support Google paths.
#include "deepvariant/merge_phased_reads.h"
#include <cstddef>
#include <fstream>
#include <set>
#include <sstream>
#include <string>
#include <vector>
#include "absl/log/check.h"
#include "absl/log/log.h"
#include "absl/status/status.h"
#include "absl/status/statusor.h"
#include "absl/strings/numbers.h"
#include "absl/strings/str_cat.h"
#include "absl/strings/str_format.h"
#include "absl/strings/string_view.h"
#include "re2/re2.h"
namespace learning {
namespace genomics {
namespace deepvariant {
absl::StatusOr<ShardedFileSpec>
parse_sharded_file_spec(absl::string_view file_spec) {
ShardedFileSpec output;
std::string nshards_str;
static const absl::string_view kShardSpecPattern =
R"((.*)\@(\d*[1-9]\d*)(?:\.(.+))?)";
if (!RE2::FullMatch(file_spec, kShardSpecPattern, &output.basename,
&nshards_str, &output.suffix)) {
// No @<N> found.
return absl::InvalidArgumentError(
absl::StrCat("'", file_spec, "' is not a valid sharded file spec."));
}
int nshards_int;
if (!absl::SimpleAtoi(nshards_str, &nshards_int)) {
return absl::OutOfRangeError(absl::StrCat(
"'", file_spec, "' is not a valid sharded file spec. '", nshards_str,
"' is too large to represent as an integer."));
}
output.nshards = nshards_int;
return output;
}
int shard_with(int num_shards) {
if (num_shards < 100000) return 5;
if (num_shards < 1000000) return 6;
if (num_shards < 10000000) return 7;
if (num_shards < 100000000) return 8;
if (num_shards < 1000000000) return 9;
LOG(FATAL) << "num_shards == " << num_shards << ": Unsupported";
}
// Generates a sharded file name from ShardedFileSpec and shard number.
// Format: <basename>-<shard>-of-<num_shards>[.<extension>]
std::string generate_sharded_filename(const ShardedFileSpec& spec, int shard) {
const int num_shards = spec.nshards;
DCHECK_LE(0, shard);
DCHECK_LE(0, num_shards);
return absl::StrCat(spec.basename, "-",
absl::StrFormat("%0*d", shard_with(num_shards), shard),
"-of-", absl::StrFormat("%05d", num_shards), spec.suffix,
spec.suffix);
}
// Loads input files from a sharded path.
void Merger::LoadFromFiles(absl::string_view input_path) {
absl::StatusOr<ShardedFileSpec> sharded_input =
parse_sharded_file_spec(input_path);
if (!sharded_input.ok()) {
LOG(FATAL) << "Could not read " << input_path;
}
num_shards_ = sharded_input->nshards;
LOG(INFO) << "basename=" << sharded_input->basename << ", " << num_shards_
<< " shards";
for (int shard = 0; shard < num_shards_; ++shard) {
if (!sharded_input.status().ok()) {
LOG(FATAL) << sharded_input.status();
}
const std::string filename =
generate_sharded_filename(sharded_input.value(), shard);
LOG(INFO) << "Loading " << filename;
std::ifstream csv_file;
csv_file.open(filename);
std::string line;
bool is_first_line = true;
while (std::getline(csv_file, line)) {
if (is_first_line) {
is_first_line = false;
continue;
}
std::istringstream iss(line);
std::vector<std::string> tokens(5);
int i = 0;
while (std::getline(iss, tokens[i], '\t')) {
i++;
}
int id = UpdateReadsMap(tokens[0]);
int region = std::stoi(tokens[2]);
CHECK_GT(region, 0);
unmerged_reads_.push_back({
.fragment_name = tokens[0],
.phase = std::stoi(tokens[1]),
.region_order = region,
.shard = shard,
.id = id,
});
}
}
LOG(INFO) << "Total records loaded: " << merged_reads_.size();
}
int Merger::UpdateReadsMap(const std::string& fragment_name) {
auto it = merged_reads_map_.find(fragment_name);
if (it == merged_reads_map_.end()) {
merged_reads_.push_back(
{.fragment_name = fragment_name, .phase = 0, .phase_dist = {}});
merged_reads_map_[fragment_name] = merged_reads_.size() - 1;
}
return merged_reads_map_[fragment_name];
}
void Merger::GroupReads() {
for (auto index = 0; index < unmerged_reads_.size(); index++) {
Group& read_group =
groups_[{.shard = unmerged_reads_[index].shard,
.region = unmerged_reads_[index].region_order}];
size_t merged_index =
merged_reads_map_[unmerged_reads_[index].fragment_name];
read_group.merged_id_to_unmerged_id[merged_index] = index;
}
num_groups_ = groups_.size();
}
// Returns true if number of reads with mismatched phases are greater than
// number of reads with matching phases.
bool Merger::CompareGroups(const ShardRegion& group_1,
const ShardRegion& group_2) const {
int num_reads_not_matching_phase = 0;
int num_reads_matching_phase = 0;
auto group_1_it = groups_.find(group_1);
auto group_2_it = groups_.find(group_2);
if (group_1_it == groups_.end() || group_2_it == groups_.end()) {
return false;
}
// Iterate read ids in group_2.
for (auto [merged_reads_idx_2, unmerged_reads_idx2] :
group_2_it->second.merged_id_to_unmerged_id) {
// Find a matching read id in group_1.
auto group1_index_map_it =
group_1_it->second.merged_id_to_unmerged_id.find(merged_reads_idx_2);
// If read is not found in group_1 then do nothing.
if (group1_index_map_it ==
group_1_it->second.merged_id_to_unmerged_id.end()) {
continue;
}
// Only consider pairs that have different phases. If one of the reads have
// phase zero it means it is unphased and we cannot compare it to another
// one.
int unmerged_reads_idx1 = group1_index_map_it->second;
if (unmerged_reads_[unmerged_reads_idx2].phase == 0 ||
unmerged_reads_[unmerged_reads_idx1].phase == 0) {
continue;
}
// Count number of reads that have matching and unmatching phases.
if (unmerged_reads_[unmerged_reads_idx2].phase !=
unmerged_reads_[unmerged_reads_idx1].phase) {
num_reads_not_matching_phase++;
} else {
num_reads_matching_phase++;
}
}
return num_reads_not_matching_phase > num_reads_matching_phase;
}
// Reverses phase for the group. Phases are reversed as follow:
// Phase 1 -> Phase 2, Phase 2 -> Phase 1, Phase 0 -> Phase 0.
void Merger::ReversePhasing(const ShardRegion& group) {
for (auto [phased_reads_idx, unphased_reads_idx] :
groups_[group].merged_id_to_unmerged_id) {
if (unmerged_reads_[unphased_reads_idx].phase > 0) {
unmerged_reads_[unphased_reads_idx].phase =
3 - unmerged_reads_[unphased_reads_idx].phase;
}
}
}
// Merge reads from the group into merged_reads_ vector. If read already exist
// in the merged_reads_ vector it's phase is not changed unless it is 0.
void Merger::MergeGroup(const ShardRegion& group) {
for (auto [phased_read_index, unphased_reads_index] :
groups_[group].merged_id_to_unmerged_id) {
// If merged_reads_ already contains the read we keep its phase and update
// phase distribution for the read.
std::string read_id = unmerged_reads_[unphased_reads_index].fragment_name;
auto& merged_read = merged_reads_[phased_read_index];
if (merged_read.phase == 0) {
merged_read.phase = unmerged_reads_[unphased_reads_index].phase;
}
merged_read.phase_dist[unmerged_reads_[unphased_reads_index].phase]++;
}
}
// Main entry point function. Reads are merged one group at a time iterating
// groups in the same order they were processed by make_examples.
// 1. reads are grouped by shard and region.
// 2. Read phases are compared between last merged group and the group being
// merged. If most phases are not matched then phase is reversed for the
// group.
// 3. Group is merged into merged_reads_.
void Merger::MergeReads() {
GroupReads();
int cur_region = 1;
int processed_groups = 0;
ShardRegion prev_group;
while (processed_groups < num_groups_) {
for (int shard = 0; shard < num_shards_; shard++) {
const auto& cur_group_it = groups_.find({shard, cur_region});
if (cur_group_it == groups_.end()) {
continue;
}
if (CompareGroups(prev_group, {shard, cur_region})) {
ReversePhasing({shard, cur_region});
}
MergeGroup({shard, cur_region});
processed_groups++;
LOG_EVERY_N(INFO, 1000) << "Processed " << processed_groups << " groups";
prev_group = cur_group_it->first;
}
cur_region++;
}
}
void MergerPeer::SetUnmergedReads(
Merger& merger, const std::vector<UnmergedRead>& unmerged_reads) {
// Cannot use absl::btree_set as the rbegin() iterator is not provided.
std::set<int> shards;
for (const auto& unmerged_read : unmerged_reads) {
shards.insert(unmerged_read.shard);
merger.unmerged_reads_.push_back(unmerged_read);
merger.UpdateReadsMap(unmerged_read.fragment_name);
}
if (!shards.empty()) {
merger.num_shards_ = *shards.rbegin() + 1;
} else {
merger.num_shards_ = 0;
}
}
} // namespace deepvariant
} // namespace genomics
} // namespace learning