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hisat2_inspect.cpp
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hisat2_inspect.cpp
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/*
* Copyright 2015, Daehwan Kim <[email protected]>
*
* This file is part of HISAT 2.
*
* HISAT 2 is free software: you can redistribute it and/or modify
* it under the terms of the GNU General Public License as published by
* the Free Software Foundation, either version 3 of the License, or
* (at your option) any later version.
*
* HISAT 2 is distributed in the hope that it will be useful,
* but WITHOUT ANY WARRANTY; without even the implied warranty of
* MERCHANTABILITY or FITNESS FOR A PARTICULAR PURPOSE. See the
* GNU General Public License for more details.
*
* You should have received a copy of the GNU General Public License
* along with HISAT 2. If not, see <http://www.gnu.org/licenses/>.
*/
#include <string>
#include <iostream>
#include <getopt.h>
#include <stdexcept>
#include "assert_helpers.h"
#include "endian_swap.h"
#include "hgfm.h"
#include "reference.h"
#include "ds.h"
#include "alt.h"
using namespace std;
MemoryTally gMemTally;
static bool showVersion = false; // just print version and quit?
int verbose = 0; // be talkative
static int names_only = 0; // just print the sequence names in the index
static int snp_only = 0;
static int splicesite_only = 0;
static int splicesite_all_only = 0;
static int exon_only = 0;
static int summarize_only = 0; // just print summary of index and quit
static int across = 60; // number of characters across in FASTA output
static bool refFromGFM = false; // true -> when printing reference, decode it from Gbwt instead of reading it from BitPairReference
static string wrapper;
static const char *short_options = "vhnsea:";
enum {
ARG_VERSION = 256,
ARG_WRAPPER,
ARG_USAGE,
ARG_SNP,
ARG_SPLICESITE,
ARG_SPLICESITE_ALL,
ARG_EXON,
};
static struct option long_options[] = {
{(char*)"verbose", no_argument, 0, 'v'},
{(char*)"version", no_argument, 0, ARG_VERSION},
{(char*)"usage", no_argument, 0, ARG_USAGE},
{(char*)"names", no_argument, 0, 'n'},
{(char*)"snp", no_argument, 0, ARG_SNP},
{(char*)"ss", no_argument, 0, ARG_SPLICESITE},
{(char*)"ss-all", no_argument, 0, ARG_SPLICESITE_ALL},
{(char*)"exon", no_argument, 0, ARG_EXON},
{(char*)"summary", no_argument, 0, 's'},
{(char*)"help", no_argument, 0, 'h'},
{(char*)"across", required_argument, 0, 'a'},
{(char*)"gbwt-ref", no_argument, 0, 'g'},
{(char*)"wrapper", required_argument, 0, ARG_WRAPPER},
{(char*)0, 0, 0, 0} // terminator
};
/**
* Print a summary usage message to the provided output stream.
*/
static void printUsage(ostream& out) {
out << "HISAT2 version " << string(HISAT2_VERSION).c_str() << " by Daehwan Kim ([email protected], http://www.ccb.jhu.edu/people/infphilo)" << endl;
out
<< "Usage: hisat2-inspect [options]* <ht2_base>" << endl
<< " <ht2_base> ht2 filename minus trailing .1." << gfm_ext << "/.2." << gfm_ext << endl
<< endl
<< " By default, prints FASTA records of the indexed nucleotide sequences to" << endl
<< " standard out. With -n, just prints names. With -s, just prints a summary of" << endl
<< " the index parameters and sequences. With -e, preserves colors if applicable." << endl
<< endl
<< "Options:" << endl;
if(wrapper == "basic-0") {
out << " --large-index force inspection of the 'large' index, even if a" << endl
<< " 'small' one is present." << endl;
}
out << " -a/--across <int> Number of characters across in FASTA output (default: 60)" << endl
<< " -s/--summary Print summary incl. ref names, lengths, index properties" << endl
<< " -n/--names Print reference sequence names only" << endl
<< " --snp Print SNPs" << endl
<< " --ss Print splice sites" << endl
<< " --ss-all Print splice sites including those not in the global index" << endl
<< " --exon Print exons" << endl
<< " -e/--ht2-ref Reconstruct reference from ." << gfm_ext << " (slow, preserves colors)" << endl
<< " -v/--verbose Verbose output (for debugging)" << endl
<< " -h/--help print detailed description of tool and its options" << endl
<< " --usage print this usage message" << endl
;
if(wrapper.empty()) {
cerr << endl
<< "*** Warning ***" << endl
<< "'hisat-inspect' was run directly. It is recommended "
<< "to use the wrapper script instead."
<< endl << endl;
}
}
/**
* Parse an int out of optarg and enforce that it be at least 'lower';
* if it is less than 'lower', than output the given error message and
* exit with an error and a usage message.
*/
static int parseInt(int lower, const char *errmsg) {
long l;
char *endPtr= NULL;
l = strtol(optarg, &endPtr, 10);
if (endPtr != NULL) {
if (l < lower) {
cerr << errmsg << endl;
printUsage(cerr);
throw 1;
}
return (int32_t)l;
}
cerr << errmsg << endl;
printUsage(cerr);
throw 1;
return -1;
}
/**
* Read command-line arguments
*/
static void parseOptions(int argc, char **argv) {
int option_index = 0;
int next_option;
do {
next_option = getopt_long(argc, argv, short_options, long_options, &option_index);
switch (next_option) {
case ARG_WRAPPER:
wrapper = optarg;
break;
case ARG_USAGE:
case 'h':
printUsage(cout);
throw 0;
break;
case 'v': verbose = true; break;
case ARG_VERSION: showVersion = true; break;
case 'g': refFromGFM = true; break;
case 'n': names_only = true; break;
case ARG_SNP: snp_only = true; break;
case ARG_SPLICESITE: splicesite_only = true; break;
case ARG_SPLICESITE_ALL: splicesite_all_only = true; break;
case ARG_EXON: exon_only = true; break;
case 's': summarize_only = true; break;
case 'a': across = parseInt(-1, "-a/--across arg must be at least 1"); break;
case -1: break; /* Done with options. */
case 0:
if (long_options[option_index].flag != 0)
break;
default:
printUsage(cerr);
throw 1;
}
} while(next_option != -1);
}
static void print_fasta_record(
ostream& fout,
const string& defline,
const string& seq)
{
fout << ">";
fout << defline.c_str() << endl;
if(across > 0) {
size_t i = 0;
while (i + across < seq.length())
{
fout << seq.substr(i, across).c_str() << endl;
i += across;
}
if (i < seq.length())
fout << seq.substr(i).c_str() << endl;
} else {
fout << seq.c_str() << endl;
}
}
/**
* Given output stream, BitPairReference, reference index, name and
* length, print the whole nucleotide reference with the appropriate
* number of columns.
*/
static void print_ref_sequence(
ostream& fout,
BitPairReference& ref,
const string& name,
size_t refi,
size_t len)
{
bool newlines = across > 0;
int myacross = across > 0 ? across : 60;
size_t incr = myacross * 1000;
uint32_t *buf = new uint32_t[(incr + 128)/4];
fout << ">" << name.c_str() << "\n";
ASSERT_ONLY(SStringExpandable<uint32_t> destU32);
for(size_t i = 0; i < len; i += incr) {
size_t amt = min(incr, len-i);
assert_leq(amt, incr);
int off = ref.getStretch(buf, refi, i, amt ASSERT_ONLY(, destU32));
uint8_t *cb = ((uint8_t*)buf) + off;
for(size_t j = 0; j < amt; j++) {
if(newlines && j > 0 && (j % myacross) == 0) fout << "\n";
assert_range(0, 4, (int)cb[j]);
fout << "ACGTN"[(int)cb[j]];
}
fout << "\n";
}
delete []buf;
}
/**
* Create a BitPairReference encapsulating the reference portion of the
* index at the given basename. Iterate through the reference
* sequences, sending each one to print_ref_sequence to print.
*/
static void print_ref_sequences(
ostream& fout,
const EList<string>& refnames,
const TIndexOffU* plen,
const string& adjustedGFMFileBase)
{
BitPairReference ref(
adjustedGFMFileBase, // input basename
false, // true -> expect colorspace reference
false, // sanity-check reference
NULL, // infiles
NULL, // originals
false, // infiles are sequences
false, // memory-map
false, // use shared memory
false, // sweep mm-mapped ref
verbose, // be talkative
verbose); // be talkative at startup
assert_eq(ref.numRefs(), refnames.size());
for(size_t i = 0; i < ref.numRefs(); i++) {
print_ref_sequence(
fout,
ref,
refnames[i],
i,
plen[i]);
}
}
/**
* Given an index, reconstruct the reference by LF mapping through the
* entire thing.
*/
template<typename index_t, typename TStr>
static void print_index_sequences(ostream& fout, GFM<index_t>& gfm)
{
EList<string>* refnames = &(gfm.refnames());
TStr cat_ref;
gfm.restore(cat_ref);
TIndexOffU curr_ref = OFF_MASK;
string curr_ref_seq = "";
TIndexOffU curr_ref_len = OFF_MASK;
TIndexOffU last_text_off = 0;
size_t orig_len = cat_ref.length();
TIndexOffU tlen = OFF_MASK;
bool first = true;
for(size_t i = 0; i < orig_len; i++) {
TIndexOffU tidx = OFF_MASK;
TIndexOffU textoff = OFF_MASK;
tlen = OFF_MASK;
bool straddled = false;
gfm.joinedToTextOff(1 /* qlen */, (TIndexOffU)i, tidx, textoff, tlen, true, straddled);
if (tidx != OFF_MASK && textoff < tlen)
{
if (curr_ref != tidx)
{
if (curr_ref != OFF_MASK)
{
// Add trailing gaps, if any exist
if(curr_ref_seq.length() < curr_ref_len) {
curr_ref_seq += string(curr_ref_len - curr_ref_seq.length(), 'N');
}
print_fasta_record(fout, (*refnames)[curr_ref], curr_ref_seq);
}
curr_ref = tidx;
curr_ref_seq = "";
curr_ref_len = tlen;
last_text_off = 0;
first = true;
}
TIndexOffU textoff_adj = textoff;
if(first && textoff > 0) textoff_adj++;
if (textoff_adj - last_text_off > 1)
curr_ref_seq += string(textoff_adj - last_text_off - 1, 'N');
curr_ref_seq.push_back("ACGT"[int(cat_ref[i])]);
last_text_off = textoff;
first = false;
}
}
if (curr_ref < refnames->size())
{
// Add trailing gaps, if any exist
if(curr_ref_seq.length() < curr_ref_len) {
curr_ref_seq += string(curr_ref_len - curr_ref_seq.length(), 'N');
}
print_fasta_record(fout, (*refnames)[curr_ref], curr_ref_seq);
}
}
static char *argv0 = NULL;
template <typename index_t>
static void print_index_sequence_names(const string& fname, ostream& fout)
{
EList<string> p_refnames;
readEbwtRefnames<index_t>(fname, p_refnames);
for(size_t i = 0; i < p_refnames.size(); i++) {
cout << p_refnames[i].c_str() << endl;
}
}
/**
* Print a short summary of what's in the index and its flags.
*/
template <typename index_t>
static void print_snps(
const string& fname,
ostream& fout)
{
ALTDB<index_t> altdb;
GFM<index_t> gfm(
fname,
&altdb,
-1, // don't require entire reverse
true, // index is for the forward direction
-1, // offrate (-1 = index default)
0, // offrate-plus (0 = index default)
false, // use memory-mapped IO
false, // use shared memory
false, // sweep memory-mapped memory
true, // load names?
false, // load SA sample?
false, // load ftab?
false, // load rstarts?
true, // load splice sites?
verbose, // be talkative?
verbose, // be talkative at startup?
false, // pass up memory exceptions?
false, // sanity check?
false); // use haplotypes?
gfm.loadIntoMemory(
-1, // need entire reverse
true, // load SA sample
true, // load ftab
true, // load rstarts
true, // load names
verbose); // verbose
EList<string> p_refnames;
readEbwtRefnames<index_t>(fname, p_refnames);
const EList<ALT<index_t> >& alts = altdb.alts();
const EList<string>& altnames = altdb.altnames();
assert_eq(alts.size(), altnames.size());
for(size_t i = 0; i < alts.size(); i++) {
const ALT<index_t>& alt = alts[i];
if(!alt.snp())
continue;
if(alt.deletion() && alt.reversed)
continue;
string type = "single";
if(alt.type == ALT_SNP_DEL) {
type = "deletion";
} else if(alt.type == ALT_SNP_INS) {
type = "insertion";
}
index_t tidx = 0, toff = 0, tlen = 0;
bool straddled2 = false;
gfm.joinedToTextOff(
1,
alt.pos,
tidx,
toff,
tlen,
true, // reject straddlers?
straddled2); // straddled?
cout << altnames[i] << "\t"
<< type << "\t";
assert_lt(tidx, p_refnames.size());
cout << p_refnames[tidx] << "\t"
<< toff << "\t";
if(alt.type == ALT_SNP_SGL) {
cout << "ACGT"[alt.seq & 0x3];
} else if(alt.type == ALT_SNP_DEL) {
cout << alt.len;
} else if(alt.type == ALT_SNP_INS) {
for(index_t i = 0; i < alt.len; i++) {
int nt = (alt.seq >> ((alt.len - i - 1) << 1)) & 0x3;
cout << "ACGT"[nt];
}
}
cout << endl;
}
}
/**
* Print a short summary of what's in the index and its flags.
*/
template <typename index_t>
static void print_splicesites(
const string& fname,
ostream& fout)
{
ALTDB<index_t> altdb;
GFM<index_t> gfm(
fname,
&altdb,
-1, // don't require entire reverse
true, // index is for the forward direction
-1, // offrate (-1 = index default)
0, // offrate-plus (0 = index default)
false, // use memory-mapped IO
false, // use shared memory
false, // sweep memory-mapped memory
true, // load names?
false, // load SA sample?
false, // load ftab?
false, // load rstarts?
true, // load splice sites?
verbose, // be talkative?
verbose, // be talkative at startup?
false, // pass up memory exceptions?
false, // sanity check?
false); // use haplotypes?
gfm.loadIntoMemory(
-1, // need entire reverse
true, // load SA sample
true, // load ftab
true, // load rstarts
true, // load names
verbose); // verbose
EList<string> p_refnames;
readEbwtRefnames<index_t>(fname, p_refnames);
const EList<ALT<index_t> >& alts = altdb.alts();
for(size_t i = 0; i < alts.size(); i++) {
const ALT<index_t>& alt = alts[i];
if(!alt.splicesite()) continue;
if(alt.left >= alt.right) continue;
if(!splicesite_all_only && alt.excluded) continue;
index_t tidx = 0, toff = 0, tlen = 0;
bool straddled2 = false;
gfm.joinedToTextOff(
1,
alt.left,
tidx,
toff,
tlen,
true, // reject straddlers?
straddled2); // straddled?
index_t tidx2 = 0, toff2 = 0, tlen2 = 0;
gfm.joinedToTextOff(
1,
alt.right,
tidx2,
toff2,
tlen2,
true, // reject straddlers?
straddled2); // straddled?
assert_eq(tidx, tidx2);
assert_lt(tidx, p_refnames.size());
cout << p_refnames[tidx] << "\t"
<< toff - 1 << "\t"
<< toff2 + 1 << "\t"
<< (alt.fw > 0 ? "+" : "-") << endl;
}
}
/**
* Print a short summary of what's in the index and its flags.
*/
template <typename index_t>
static void print_exons(
const string& fname,
ostream& fout)
{
ALTDB<index_t> altdb;
GFM<index_t> gfm(
fname,
&altdb,
-1, // don't require entire reverse
true, // index is for the forward direction
-1, // offrate (-1 = index default)
0, // offrate-plus (0 = index default)
false, // use memory-mapped IO
false, // use shared memory
false, // sweep memory-mapped memory
true, // load names?
false, // load SA sample?
false, // load ftab?
false, // load rstarts?
true, // load splice sites?
verbose, // be talkative?
verbose, // be talkative at startup?
false, // pass up memory exceptions?
false, // sanity check?
false); // use haplotypes?
gfm.loadIntoMemory(
-1, // need entire reverse
true, // load SA sample
true, // load ftab
true, // load rstarts
true, // load names
verbose); // verbose
EList<string> p_refnames;
readEbwtRefnames<index_t>(fname, p_refnames);
const EList<ALT<index_t> >& alts = altdb.alts();
for(size_t i = 0; i < alts.size(); i++) {
const ALT<index_t>& alt = alts[i];
if(!alt.exon()) continue;
index_t tidx = 0, toff = 0, tlen = 0;
bool straddled2 = false;
gfm.joinedToTextOff(
1,
alt.left,
tidx,
toff,
tlen,
true, // reject straddlers?
straddled2); // straddled?
index_t tidx2 = 0, toff2 = 0, tlen2 = 0;
gfm.joinedToTextOff(
1,
alt.right,
tidx2,
toff2,
tlen2,
true, // reject straddlers?
straddled2); // straddled?
assert_eq(tidx, tidx2);
assert_lt(tidx, p_refnames.size());
cout << p_refnames[tidx] << "\t"
<< toff - 1 << "\t"
<< toff2 + 1 << "\t"
<< (alt.fw > 0 ? "+" : "-") << endl;
}
}
/**
* Print a short summary of what's in the index and its flags.
*/
template <typename index_t>
static void print_index_summary(
const string& fname,
ostream& fout)
{
int major, minor;
string extra_version;
int32_t flags = GFM<index_t>::readVersionFlags(fname, major, minor, extra_version);
bool entireReverse = false;
ALTDB<index_t> altdb;
GFM<index_t> gfm(
fname,
&altdb,
-1, // don't require entire reverse
true, // index is for the forward direction
-1, // offrate (-1 = index default)
0, // offrate-plus (0 = index default)
false, // use memory-mapped IO
false, // use shared memory
false, // sweep memory-mapped memory
true, // load names?
false, // load SA sample?
false, // load ftab?
false, // load rstarts?
true, // load splice sites?
verbose, // be talkative?
verbose, // be talkative at startup?
false, // pass up memory exceptions?
false, // sanity check?
false); // use haplotypes?
EList<string> p_refnames;
readEbwtRefnames<index_t>(fname, p_refnames);
cout << "Index version" << "\t2." << major << '.' << minor;
if(extra_version != "") {
cout << "-" << extra_version;
}
cout << endl;
cout << "Flags" << '\t' << (-flags) << endl;
cout << "2.0-compatible" << '\t' << (entireReverse ? "1" : "0") << endl;
cout << "SA-Sample" << "\t1 in " << (1 << gfm.gh().offRate()) << endl;
cout << "FTab-Chars" << '\t' << gfm.gh().ftabChars() << endl;
assert_eq(gfm.nPat(), p_refnames.size());
for(size_t i = 0; i < p_refnames.size(); i++) {
cout << "Sequence-" << (i+1)
<< '\t' << p_refnames[i].c_str()
<< '\t' << gfm.plen()[i]
<< endl;
}
index_t numSnps = 0, numSpliceSites = 0, numExons = 0;
const EList<ALT<index_t> >& alts = altdb.alts();
for(size_t i = 0; i < alts.size(); i++) {
const ALT<index_t>& alt = alts[i];
if(alt.snp()) {
numSnps++;
} else if(alt.splicesite()) {
if(alt.left < alt.right) {
numSpliceSites++;
}
} else if(alt.exon()) {
numExons++;
}
}
cout << "Num. SNPs: " << numSnps << endl;
cout << "Num. Splice Sites: " << numSpliceSites << endl;
cout << "Num. Exons: " << numExons << endl;
}
extern void initializeCntLut();
extern void initializeCntBit();
static void driver(
const string& ebwtFileBase,
const string& query)
{
initializeCntLut();
initializeCntBit();
// Adjust
string adjustedEbwtFileBase = adjustEbwtBase(argv0, ebwtFileBase, verbose);
if (names_only) {
print_index_sequence_names<TIndexOffU>(adjustedEbwtFileBase, cout);
} else if(summarize_only) {
print_index_summary<TIndexOffU>(adjustedEbwtFileBase, cout);
} else if(snp_only) {
print_snps<TIndexOffU>(adjustedEbwtFileBase, cout);
} else if(splicesite_only || splicesite_all_only) {
print_splicesites<TIndexOffU>(adjustedEbwtFileBase, cout);
} else if(exon_only) {
print_exons<TIndexOffU>(adjustedEbwtFileBase, cout);
} else {
// Initialize Ebwt object
ALTDB<TIndexOffU> altdb;
HGFM<TIndexOffU, uint16_t> gfm(
adjustedEbwtFileBase,
&altdb,
-1, // don't care about entire-reverse
true, // index is for the forward direction
-1, // offrate (-1 = index default)
0, // offrate-plus (0 = index default)
false, // use memory-mapped IO
false, // use shared memory
false, // sweep memory-mapped memory
true, // load names?
true, // load SA sample?
true, // load ftab?
true, // load rstarts?
true, // load splice sites?
false, // be talkative?
false, // be talkative at startup?
false, // pass up memory exceptions?
false, // sanity check?
false); // use haplotypes?
gfm.loadIntoMemory(
-1, // need entire reverse
true, // load SA sample
true, // load ftab
true, // load rstarts
true, // load names
verbose); // verbose
// Load whole index into memory
if(refFromGFM) {
print_index_sequences<TIndexOffU, SString<char> >(cout, gfm);
} else {
EList<string> refnames;
readEbwtRefnames<TIndexOffU>(adjustedEbwtFileBase, refnames);
print_ref_sequences(
cout,
refnames,
gfm.plen(),
adjustedEbwtFileBase);
}
// Evict any loaded indexes from memory
if(gfm.isInMemory()) {
gfm.evictFromMemory();
}
}
}
/**
* main function. Parses command-line arguments.
*/
int main(int argc, char **argv) {
try {
string ebwtFile; // read serialized Ebwt from this file
string query; // read query string(s) from this file
EList<string> queries;
string outfile; // write query results to this file
argv0 = argv[0];
parseOptions(argc, argv);
if(showVersion) {
cout << argv0 << " version " << HISAT2_VERSION << endl;
if(sizeof(void*) == 4) {
cout << "32-bit" << endl;
} else if(sizeof(void*) == 8) {
cout << "64-bit" << endl;
} else {
cout << "Neither 32- nor 64-bit: sizeof(void*) = " << sizeof(void*) << endl;
}
cout << "Built on " << BUILD_HOST << endl;
cout << BUILD_TIME << endl;
cout << "Compiler: " << COMPILER_VERSION << endl;
cout << "Options: " << COMPILER_OPTIONS << endl;
cout << "Sizeof {int, long, long long, void*, size_t, off_t}: {"
<< sizeof(int)
<< ", " << sizeof(long) << ", " << sizeof(long long)
<< ", " << sizeof(void *) << ", " << sizeof(size_t)
<< ", " << sizeof(off_t) << "}" << endl;
return 0;
}
// Get input filename
if(optind >= argc) {
cerr << "No index name given!" << endl;
printUsage(cerr);
return 1;
}
ebwtFile = argv[optind++];
// Optionally summarize
if(verbose) {
cout << "Input ht2 file: \"" << ebwtFile.c_str() << "\"" << endl;
cout << "Output file: \"" << outfile.c_str() << "\"" << endl;
cout << "Local endianness: " << (currentlyBigEndian()? "big":"little") << endl;
#ifdef NDEBUG
cout << "Assertions: disabled" << endl;
#else
cout << "Assertions: enabled" << endl;
#endif
}
driver(ebwtFile, query);
return 0;
} catch(std::exception& e) {
cerr << "Error: Encountered exception: '" << e.what() << "'" << endl;
cerr << "Command: ";
for(int i = 0; i < argc; i++) cerr << argv[i] << " ";
cerr << endl;
return 1;
} catch(int e) {
if(e != 0) {
cerr << "Error: Encountered internal HISAT2 exception (#" << e << ")" << endl;
cerr << "Command: ";
for(int i = 0; i < argc; i++) cerr << argv[i] << " ";
cerr << endl;
}
return e;
}
}