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antidb

Quick start

pip3 install antidb

from antidb import (Idx,
                    Prs,
                    count_exec_time)

__version__ = 'v1.0.0'

dbsnp_vcf_path = '/path/to/GCF_000001405.40.zst'
dbsnp_idx_prefix = 'all_rsids'
dbsnp_idx = Idx(dbsnp_vcf_path,
                dbsnp_idx_prefix,
                lambda dbsnp_zst_line:
                dbsnp_zst_line.split('\t')[2])
dbsnp_idx.idx()
dbsnp_prs = Prs(dbsnp_vcf_path,
                dbsnp_idx_prefix)


@count_exec_time
def get_rsid_lines(dbsnp_prs):
    for dbsnp_zst_line in dbsnp_prs.prs(['rs1009150',
                                         'rs12044852',
                                         'rs4902496']):
        print(dbsnp_zst_line)


print(get_rsid_lines(dbsnp_prs))

NC_000022.11    36306254        rs1009150       C       T       .       .       RS=1009150;dbSNPBuildID=86;SSR=0;GENEINFO=MYH9:4627;VC=SNV;PUB;INT;GNO;FREQ=1000Genomes:0.569,0.431|ALSPAC:0.2906,0.7094|Estonian:0.269,0.731|GENOME_DK:0.35,0.65|GnomAD:0.4415,0.5585|GoNL:0.3126,0.6874|HapMap:0.5881,0.4119|KOREAN:0.7334,0.2666|MGP:0.8652,0.1348|NorthernSweden:0.315,0.685|Qatari:0.5463,0.4537|SGDP_PRJ:0.2929,0.7071|Siberian:0.3043,0.6957|TOMMO:0.7117,0.2883|TOPMED:0.4596,0.5404|TWINSUK:0.2869,0.7131|dbGaP_PopFreq:0.3304,0.6696;COMMON;CLNVI=.,;CLNORIGIN=.,1;CLNSIG=.,2;CLNDISDB=.,MedGen:CN517202;CLNDN=.,not_provided;CLNREVSTAT=.,single;CLNACC=.,RCV001695529.1;CLNHGVS=NC_000022.11:g.36306254=,NC_000022.11:g.36306254C>T

NC_000001.11    116545157       rs12044852      C       A       .       .       RS=12044852;dbSNPBuildID=120;SSR=0;GENEINFO=CD58:965|LOC105378925:105378925;VC=SNV;PUB;INT;GNO;FREQ=1000Genomes:0.7473,0.2527|ALSPAC:0.8957,0.1043|Chileans:0.7396,0.2604|Estonian:0.9125,0.0875|GENOME_DK:0.875,0.125|GnomAD:0.8826,0.1174|GoNL:0.9078,0.09218|HapMap:0.787,0.213|KOREAN:0.3945,0.6055|Korea1K:0.3892,0.6108|NorthernSweden:0.895,0.105|PRJEB37584:0.439,0.561|Qatari:0.8704,0.1296|SGDP_PRJ:0.3373,0.6627|Siberian:0.3846,0.6154|TOMMO:0.4146,0.5854|TOPMED:0.8671,0.1329|TWINSUK:0.8972,0.1028|Vietnamese:0.4486,0.5514|dbGaP_PopFreq:0.8864,0.1136;COMMON

NC_000014.9     67588896        rs4902496       C       G,T     .       .       RS=4902496;dbSNPBuildID=111;SSR=0;GENEINFO=PIGH:5283|GPHN:10243|PLEKHH1:57475;VC=SNV;PUB;U3;INT;R3;GNO;FREQ=1000Genomes:0.3357,0.6643,.|ALSPAC:0.2019,0.7981,.|Estonian:0.1518,0.8482,.|GENOME_DK:0.125,0.875,.|GoNL:0.1703,0.8297,.|HapMap:0.3639,0.6361,.|KOREAN:0.3399,0.6601,.|MGP:0.3558,0.6442,.|NorthernSweden:0.1817,0.8183,.|Qatari:0.2176,0.7824,.|SGDP_PRJ:0.189,0.811,.|Siberian:0.1429,0.8571,.|TOMMO:0.2816,0.7184,.|TOPMED:0.285,0.715,.|TWINSUK:0.1888,0.8112,.|Vietnamese:0.4533,0.5467,.|dbGaP_PopFreq:0.2712,0.7288,0;COMMON

('get_rsid_lines', '0:00:00.007858')

App example

Bioinformatic annotator template

# autopep8: off
import sys; sys.dont_write_bytecode = True
# autopep8: on
import json
import os
from argparse import ArgumentParser
from datetime import datetime
from antidb import (Idx,
                    Prs,
                    count_exec_time)

__version__ = 'v1.0.0'


def parse_dbsnp_line(dbsnp_zst_line):
    if 'GnomAD' in dbsnp_zst_line \
            and 'CLN' in dbsnp_zst_line:
        return dbsnp_zst_line.split('\t')[2]
    return None


def parse_rsmerged_line(rsmerged_zst_line):
    rsmerged_zst_obj = json.loads(rsmerged_zst_line)
    rsids = list(map(lambda rsid: f'rs{rsid}',
                     ([rsmerged_zst_obj['refsnp_id']] +
                      rsmerged_zst_obj['merged_snapshot_data']['merged_into'])))
    return rsids


def rsid_to_coords(rsid, dbsnp_prs,
                   rsmerged_prs, parse_rsmerged_line):
    for dbsnp_zst_line in dbsnp_prs.prs(rsid):
        return dbsnp_zst_line
    for rsmerged_zst_line in rsmerged_prs.prs(rsid):
        rsid_syns = parse_rsmerged_line(rsmerged_zst_line)
        for dbsnp_zst_line in dbsnp_prs.prs(rsid_syns):
            return dbsnp_zst_line
    return None


arg_parser = ArgumentParser()
arg_parser.add_argument('-S', '--ann-file-path', required=True, metavar='str', dest='ann_file_path', type=str,
                        help='Path to table with rsIDs column (uncompressed)')
arg_parser.add_argument('-D', '--dbsnp-file-path', required=True, metavar='str', dest='dbsnp_file_path', type=str,
                        help='Path to official dbSNP VCF (uncompressed or compressed via Seekable zstd)')
arg_parser.add_argument('-R', '--rsmerged-file-path', required=True, metavar='str', dest='rsmerged_file_path', type=str,
                        help='Path to official refsnp-merged JSON (uncompressed or compressed via Seekable zstd)')
arg_parser.add_argument('-T', '--trg-dir-path', required=True, metavar='str', dest='trg_dir_path', type=str,
                        help='Path to directory for results')
arg_parser.add_argument('-c', '--rsids-col-num', metavar='1', default=1, dest='rsids_col_num', type=int,
                        help='rsIDs-column number in source table')
args = arg_parser.parse_args()

dbsnp_idx = Idx(args.dbsnp_file_path,
                'rsids__gnomad_cln',
                parse_dbsnp_line)
dbsnp_idx.idx()
rsmerged_idx = Idx(args.rsmerged_file_path,
                   'rsids',
                   parse_rsmerged_line)
rsmerged_idx.idx()
perf = {'dbsnp_idx': dbsnp_idx.perf,
        'rsmerged_idx': rsmerged_idx.perf}
dbsnp_prs = Prs(args.dbsnp_file_path,
                'rsids__gnomad_cln')
rsmerged_prs = Prs(args.rsmerged_file_path,
                   'rsids')


@count_exec_time
def ann(args, res_files_crt_time, dbsnp_prs, rsmerged_prs, parse_rsmerged_line):
    trg_file_path = os.path.join(args.trg_dir_path,
                                 f'ann_res_{res_files_crt_time}.txt')
    dump_file_path = os.path.join(args.trg_dir_path,
                                  f'ann_dump_{res_files_crt_time}.txt')
    with open(args.ann_file_path) as ann_file_opened:
        with open(trg_file_path, 'w') as trg_file_opened:
            with open(dump_file_path, 'w') as dump_file_opened:
                for ann_file_line in ann_file_opened:
                    if ann_file_line.startswith('#'):
                        continue
                    ann_file_line = ann_file_line.rstrip()
                    ann_rsid = ann_file_line.split('\t')[args.rsids_col_num - 1]
                    dbsnp_zst_line = rsid_to_coords(ann_rsid,
                                                    dbsnp_prs,
                                                    rsmerged_prs,
                                                    parse_rsmerged_line)
                    if dbsnp_zst_line:
                        trg_file_opened.write(ann_file_line + '\t' +
                                              dbsnp_zst_line)
                    else:
                        dump_file_opened.write(ann_file_line + '\n')


res_files_crt_time = datetime.now()

perf['ann'] = ann(args,
                  res_files_crt_time,
                  dbsnp_prs,
                  rsmerged_prs,
                  parse_rsmerged_line)[1]

perf_file_path = os.path.join(args.trg_dir_path,
                              f'ann_perf_{res_files_crt_time}.json')
with open(perf_file_path, 'w') as perf_file_opened:
    json.dump(perf, perf_file_opened, indent=4)

Performance measurement results

ann_perf_2023-07-09 20:45:36.102376.json
  • dbsnp_idx - indexing GnomAD- and CLN-containing lines of dbSNP VCF;
    • crt_db_zst - compressing indexable file (output is further called "DB");
    • crt_full_idx_tmp - indexing DB (output is further called "temporary full index");
    • crt_full_idx_tmp_srtd - sorting temporary full index by indexed DB elements;
    • crt_full_idx - compressing sorted temporary full index (output is further called "full index");
    • crt_mem_idx - selective indexing of full index;
  • rsmerged_idx - indexing all lines of rsmerged JSON;
    • <...>
  • ann - querying 2842 rsIDs by indexed dbSNP VCF and indexed rsmerged JSON.
{
    "dbsnp_idx": [
        [
            "crt_db_zst",
            "0:39:02.127938"
        ],
        [
            "crt_full_idx_tmp",
            "1:06:13.698458"
        ],
        [
            "crt_full_idx_tmp_srtd",
            "0:00:00.928633"
        ],
        [
            "crt_full_idx",
            "0:00:00.577710"
        ],
        [
            "crt_mem_idx",
            "0:00:00.280014"
        ]
    ],
    "rsmerged_idx": [
        [
            "crt_db_zst",
            "0:02:44.068920"
        ],
        [
            "crt_full_idx_tmp",
            "0:04:43.153807"
        ],
        [
            "crt_full_idx_tmp_srtd",
            "0:00:30.015826"
        ],
        [
            "crt_full_idx",
            "0:00:17.204649"
        ],
        [
            "crt_mem_idx",
            "0:00:08.811190"
        ]
    ],
    "ann": "0:00:06.995505"
}