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SumStatsRehab.py
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SumStatsRehab.py
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# standard library
import sys
import os
from subprocess import call
import inspect
import time
from typing import Dict, List, Literal, Union
import json
import argparse
import pathlib
# local
from lib.prepare_two_dbSNPs import prepare_two_dbSNPs
from lib.prepare_GWASSS_columns import prepare_GWASSS_columns
from lib.validate_GWASSS_entries import validate_GWASSS_entries
from lib.sort_GWASSS_by_ChrBP import sort_GWASSS_by_ChrBP
from lib.sort_GWASSS_by_rsID import sort_GWASSS_by_rsID
from lib.loop_fix import ResolverName, resolvers_names, loop_fix, ActivatedResolvers
from lib.report_utils import read_report_from_dir
from lib.standard_column_order import STANDARD_COLUMN_ORDER
from lib.env import get_build, set_build
from lib.utils import mv, rm, rm_r, rm_rf
# # # # # # # # # # # # # # # # # # # # # # # # # #
# #
# FUNCTIONS #
# #
# # # # # # # # # # # # # # # # # # # # # # # # # #
def remove_last_ext(filename: str):
return filename.rsplit(".", 1)[0] # passed 1 means do max 1 split; _rightmost_ splits first
def perc(x, total):
if x/total < 0.0001:
return "<0.01%"
else:
return str(round((x/total)*100, 2)) + "%"
class brag:
def see_formatted_file(self, OUTPUT_FILE: str):
print(f" see formatted file at: \"{OUTPUT_FILE}\"")
def see_fixed_file(self, OUTPUT_FILE: str):
print(f" see fixed file at: \"{OUTPUT_FILE}\"")
def all_issues_resolved(self, total_entries: int):
print(f"All issues with all data points have been resolved!")
print(f"all {total_entries} SNP entries are good")
def all_which_can_be_solved_is_resolved(self):
print(f"Those issues which were possible to resolve have been resolved")
def the_input_file_has_no_issues(self, total_entries: int):
print(f"The input summary statistics file doesn't seem to have any issues!")
print(f"all {total_entries} SNPs are good")
def the_input_file_has_nothing_to_resolve(self):
print(f"The input file has nothing to resolve")
BRAG = brag()
class inform:
def this_number_of_ChrBP_lost_after_liftover(self, Chr_lost: int, BP_lost: int, total_entries: int):
if Chr_lost > 0:
print(f"lost {Chr_lost} ({perc(Chr_lost,total_entries)}) \"Chr\" fields")
if BP_lost > 0:
print(f"lost {BP_lost} ({perc(BP_lost, total_entries)}) \"BP\" fields")
def no_need_for_liftover_since_ChrBP_will_be_restored(self):
print(f"There's no need for liftover since all Chr and BP will be attempted to be restored in the target build")
INFORM = inform()
class warn:
def impossible_to_liftover_since_all_Chr_or_BP_are_invalid(self):
print(f"WARNING: Impossible to perform liftover. Liftover requires at least 1 entry with both valid Chr and BP. dbSNP2 wasn't passed, so Chr and BP will not be restored.")
def beta_resolver_was_enabled(self):
print(f"WARNING: if standard error field is provided without a sign, then restored beta will be unsigned.")
WARN = warn()
# # # # # # # # # # # # # # # # # # # # # # # # # #
# #
# COMMANDS #
# #
# # # # # # # # # # # # # # # # # # # # # # # # # #
def fix(INPUT_GWAS_FILE: str,
OUTPUT_FILE: str,
dbSNP_FILE: str,
dbSNP2_FILE: str,
CHAIN_FILE: str,
FREQ_DATABASE_SLUG: str,
ACTIVATED_RESOLVERS: Dict[ResolverName, bool] = {
"ChrBP": True,
"rsID": True,
"OA": True,
"EA": True,
"EAF": True,
"beta": False,
"SE": True,
"pval": True,
},
VERBOSE: bool = False,
):
### PROCESS INPUT ###
INPUT_GWAS_FILE = str(INPUT_GWAS_FILE)
JSON_CONFIG = INPUT_GWAS_FILE + '.json'
OUTPUT_FILE = str(OUTPUT_FILE)
dbSNP_FILE = str(dbSNP_FILE)
dbSNP2_FILE = str(dbSNP2_FILE)
CHAIN_FILE = str(CHAIN_FILE)
FREQ_DATABASE_SLUG = str(FREQ_DATABASE_SLUG)
ACTIVATED_RESOLVERS = ActivatedResolvers(ACTIVATED_RESOLVERS)
### declare shortcut functions ###
def gonna_resolve(field: str, issues: Dict[str, int]) -> bool:
if field in ('Chr', 'BP'):
return bool(issues[field] and dbSNP2_FILE != 'None' and ACTIVATED_RESOLVERS['ChrBP']) # Chr and BP are always resolved together
elif field == 'rsID':
return bool(issues[field] and dbSNP_FILE != 'None' and ACTIVATED_RESOLVERS['rsID'])
elif field in ('OA','EA','EAF'):
return bool(issues[field] and (dbSNP_FILE != 'None' or dbSNP2_FILE != 'None') and ACTIVATED_RESOLVERS[field])
else:
return bool(issues[field] and ACTIVATED_RESOLVERS[field])
def any_issues_to_resolve(issues: Dict[str, int]):
issues_to_resolve: Dict[str, int] = {}
for field, issue_count in issues.items():
if issue_count > 0 and gonna_resolve(field, issues):
issues_to_resolve[field] = True
return any(issues_to_resolve.values())
intermediate_files: List[str] = []
def present_output(result_file: str):
if VERBOSE:
return result_file
else:
for junk in intermediate_files:
rm_rf(junk)
mv(result_file, OUTPUT_FILE)
return OUTPUT_FILE
### Set the environment varaible for the build ###
config: Dict[str, Union[int, str]] = json.load(open(JSON_CONFIG,))
try:
input_build = config['build']
except:
raise ValueError('config file that corresponds to the GWAS SS file has to have "build" key set')
set_build(input_build)
input_build = get_build()
print(f'input build: {input_build}')
i_step = 0
##### 1 #####
i_step += 1
print(f'=== Step {i_step}: Format the GWAS SS file ===')
start_time = time.time()
INPUT_GWAS_FILE_standard = remove_last_ext(INPUT_GWAS_FILE) + "_standard.tsv"
prepare_GWASSS_columns(
INPUT_GWAS_FILE,
INPUT_GWAS_FILE_standard,
)
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
##### 2 #####
i_step += 1
print(f'=== Step {i_step}: Validate entries in the formatted GWAS SS file and save the report ===')
start_time = time.time()
input_validation_report_dir = INPUT_GWAS_FILE + "_input-report"
validate_GWASSS_entries(
INPUT_GWAS_FILE_standard,
"standard",
input_validation_report_dir,
)
intermediate_files.append(input_validation_report_dir)
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
##### 3 #####
i_step += 1
print(f'=== Step {i_step}: Analyze the report and prepare for REHAB ===')
start_time = time.time()
issues, total_entries = read_report_from_dir(input_validation_report_dir)
required_sorting: bool = False
required_liftover: bool = False
ChrBP_lost_because_of_liftover: int = 0
sorted_by: Literal[None, 'rsID', 'ChrBP'] = None
INPUT_GWAS_FILE_standard_sorted = remove_last_ext(INPUT_GWAS_FILE) + "_standard_sorted.tsv"
INPUT_GWAS_FILE_standard_lifted = remove_last_ext(INPUT_GWAS_FILE) + "_standard_lifted.tsv"
INPUT_GWAS_FILE_prepared: str = INPUT_GWAS_FILE_standard
if get_build() != 'hg38' and CHAIN_FILE and CHAIN_FILE != "None":
if issues['BP']<total_entries and issues['Chr']<total_entries:
required_liftover = True
ChrBP_lost_because_of_liftover = loop_fix(
INPUT_GWAS_FILE_standard,
input_validation_report_dir,
INPUT_GWAS_FILE_standard_lifted,
dbSNP_FILE,
dbSNP2_FILE,
CHAIN_FILE,
FREQ_DATABASE_SLUG if FREQ_DATABASE_SLUG else 'None',
sorted_by if sorted_by else None,
)
INPUT_GWAS_FILE_prepared = INPUT_GWAS_FILE_standard_lifted
intermediate_files.append(INPUT_GWAS_FILE_standard)
print("finished liftover to hg38 (saved report)")
set_build('hg38')
input_lifted_validation_report_dir = INPUT_GWAS_FILE + "_input-lifted-report"
validate_GWASSS_entries(
INPUT_GWAS_FILE_standard_lifted,
"standard",
input_lifted_validation_report_dir,
)
intermediate_files.append(input_lifted_validation_report_dir)
elif dbSNP2_FILE != 'None':
# if either Chr or BP is fully missing, there's no need for liftover.
# Because Chr and BP will be attempted to be restored with dbSNPs in the target build
set_build('hg38')
INFORM.no_need_for_liftover_since_ChrBP_will_be_restored()
else:
WARN.impossible_to_liftover_since_all_Chr_or_BP_are_invalid()
if (
gonna_resolve('BP',issues) or
gonna_resolve('Chr',issues) or
gonna_resolve('EAF',issues)
) and issues['rsID']<total_entries:
# here if some alleles are invalid, they will be attempted to be restored by rsID,
# which is better then by ChrBP
required_sorting = True
sorted_by = 'rsID'
for col in ('Chr', 'BP'):
if issues[col]:
print(f"{issues[col]}/{total_entries} entries are missing {col}")
print(f"Going to sort the GWAS SS file by rsID")
sort_GWASSS_by_rsID(
INPUT_GWAS_FILE_standard_lifted if required_liftover else INPUT_GWAS_FILE_standard,
INPUT_GWAS_FILE_standard_sorted,
)
intermediate_files.append(INPUT_GWAS_FILE_standard_lifted)
intermediate_files.append(INPUT_GWAS_FILE_standard)
INPUT_GWAS_FILE_prepared = INPUT_GWAS_FILE_standard_sorted
print(f"Sorted by rsID")
elif (
gonna_resolve('rsID',issues) or
gonna_resolve('OA',issues) or
gonna_resolve('EA',issues) or
gonna_resolve('EAF',issues)
) and issues['Chr']<total_entries and issues['BP']<total_entries:
# however if anyway going to restore any alleles and either:
# - all rsIDs are missing, or
# - if going to restore rsID too
# then sort by ChrBP and those will be restored from Chr and BP
required_sorting = True
sorted_by = 'ChrBP'
for col in ('rsID', 'OA', 'EA'):
if issues[col]:
print(f"{issues[col]}/{total_entries} entries are missing {col}")
print(f"Going to sort the GWAS SS file by Chr and BP")
sort_GWASSS_by_ChrBP(
INPUT_GWAS_FILE_standard_lifted if required_liftover else INPUT_GWAS_FILE_standard,
INPUT_GWAS_FILE_standard_sorted,
)
intermediate_files.append(INPUT_GWAS_FILE_standard_lifted)
intermediate_files.append(INPUT_GWAS_FILE_standard)
INPUT_GWAS_FILE_prepared = INPUT_GWAS_FILE_standard_sorted
print(f"Sorted by Chr and BP")
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
if not any(issues.values()) and not ChrBP_lost_because_of_liftover:
BRAG.the_input_file_has_no_issues(total_entries)
BRAG.see_formatted_file(
present_output(INPUT_GWAS_FILE_prepared)
)
return
elif not any(issues.values()) and ChrBP_lost_because_of_liftover:
INFORM.this_number_of_ChrBP_lost_after_liftover(
Chr_lost=ChrBP_lost_because_of_liftover,
BP_lost=ChrBP_lost_because_of_liftover,
total_entries=total_entries,
)
BRAG.the_input_file_has_nothing_to_resolve()
BRAG.see_formatted_file(
present_output(INPUT_GWAS_FILE_prepared)
)
return
elif not any_issues_to_resolve(issues):
BRAG.the_input_file_has_nothing_to_resolve()
BRAG.see_formatted_file(
present_output(INPUT_GWAS_FILE_prepared)
)
return
##### 4 #####
i_step += 1
print(f'=== Step {i_step}: REHAB: loopping through the GWAS SS file and fixing entries ===')
start_time = time.time()
FILE_FOR_FIXING = INPUT_GWAS_FILE_prepared
REHAB_OUTPUT_FILE = OUTPUT_FILE + '.rehabed.tsv'
loop_fix(
FILE_FOR_FIXING,
input_validation_report_dir,
REHAB_OUTPUT_FILE,
dbSNP_FILE,
dbSNP2_FILE,
'None',
FREQ_DATABASE_SLUG if FREQ_DATABASE_SLUG else 'None',
sorted_by if sorted_by else None
)
intermediate_files.append(FILE_FOR_FIXING)
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
##### 5 #####
i_step += 1
print(f'=== Step {i_step}: Validate entries in the fixed GWAS SS file and save the report ===')
start_time = time.time()
REHABed_validation_report_dir = INPUT_GWAS_FILE + "_REHABed-report"
validate_GWASSS_entries(
REHAB_OUTPUT_FILE,
"standard",
REHABed_validation_report_dir,
)
intermediate_files.append(REHABed_validation_report_dir)
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
##### 6 #####
i_step += 1
print(f'=== Step {i_step}: Analyze the report after REHAB ===')
start_time = time.time()
issues_REHABed, total_entries = read_report_from_dir(REHABed_validation_report_dir)
issues_solved = {c: issues[c]-issues_REHABed[c] for c in issues}
for col in STANDARD_COLUMN_ORDER:
if col not in ('N', 'INFO') and issues_solved[col]:
if issues_solved[col] < 0:
if col in ('Chr', 'BP') and get_build() != input_build:
print(f"lost {-issues_solved[col]} ({perc(-issues_solved[col], total_entries)}) \"{col}\" fields after liftover")
else:
print(f"lost {-issues_solved[col]} ({perc(-issues_solved[col], total_entries)}) \"{col}\" fields")
else: # issues_solved[col] > 0:
print(f"restored {issues_solved[col]} ({perc(issues_solved[col], total_entries)}) \"{col}\" fields")
INPUT_GWAS_FILE_standard_sorted2 = remove_last_ext(INPUT_GWAS_FILE) + "_standard_sorted2.tsv"
required_sorting2: bool = False
if sorted_by != 'ChrBP' and (
gonna_resolve('rsID',issues_REHABed) or
gonna_resolve('OA',issues_REHABed) or
gonna_resolve('EA',issues_REHABed) or
gonna_resolve('EAF',issues_REHABed)
) and \
(not issues['Chr']==total_entries and not issues['BP']==total_entries):
# if either rsID, OA, or EA are invalid, we can try sorting by ChrBP to restore them.
# But if Chr or BP was totally missing at first, it won't help to try this
required_sorting2 = True
sorted_by = 'ChrBP'
for col in ('rsID', 'OA', 'EA'):
if issues_REHABed[col]:
print(f"{issues_REHABed[col]}/{total_entries} entries are missing {col}")
print(f"Going to sort the GWAS SS file by Chr and BP")
sort_GWASSS_by_ChrBP(
REHAB_OUTPUT_FILE,
INPUT_GWAS_FILE_standard_sorted2,
)
intermediate_files.append(REHAB_OUTPUT_FILE)
print(f"Sorted by Chr and BP")
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
if not any(issues_REHABed.values()):
BRAG.all_issues_resolved(total_entries)
BRAG.see_fixed_file(
present_output(REHAB_OUTPUT_FILE)
)
return
if not required_sorting2:
# if the file doesn't require any other sorting,
# then with the current sorting everything that could be restored is already restored
BRAG.all_which_can_be_solved_is_resolved()
BRAG.see_fixed_file(
present_output(REHAB_OUTPUT_FILE)
)
return
##### 7 #####
i_step += 1
print(f'=== Step {i_step}: REHAB: loopping through the GWAS SS file again and fixing entries ===')
start_time = time.time()
FILE_FOR_FIXING = INPUT_GWAS_FILE_standard_sorted2 if required_sorting2 else REHAB_OUTPUT_FILE
REHAB2_OUTPUT_FILE = OUTPUT_FILE + '.rehabed-twice.tsv'
loop_fix(
FILE_FOR_FIXING,
REHABed_validation_report_dir,
REHAB2_OUTPUT_FILE,
dbSNP_FILE,
dbSNP2_FILE,
'None', # setting to None suppresses liftover second time
FREQ_DATABASE_SLUG if FREQ_DATABASE_SLUG else 'None',
sorted_by if sorted_by else None
)
intermediate_files.append(FILE_FOR_FIXING)
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
##### 8 #####
i_step += 1
print(f'=== Step {i_step}: Validate entries in the twice REHABed GWAS SS file and save the report ===')
start_time = time.time()
REHABed_twice_validation_report_dir = INPUT_GWAS_FILE + "_REHABed-twice-report"
validate_GWASSS_entries(
REHAB2_OUTPUT_FILE,
"standard",
REHABed_twice_validation_report_dir,
)
intermediate_files.append(REHABed_twice_validation_report_dir)
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
##### 9 #####
i_step += 1
print(f'=== Step {i_step}: Analyze the report after the second REHAB ===')
start_time = time.time()
issues_REHABed_twice, total_entries = read_report_from_dir(REHABed_twice_validation_report_dir)
issues_solved = {c: issues[c]-issues_REHABed_twice[c] for c in issues}
for col in STANDARD_COLUMN_ORDER:
if col not in ('N', 'INFO') and issues_solved[col]:
if issues_solved[col] < 0:
print(f"lost {-issues_solved[col]} ({perc(-issues_solved[col], total_entries)}) \"{col}\" fields")
else:
print(f"restored {issues_solved[col]} ({perc(issues_solved[col], total_entries)}) \"{col}\" fields")
print(f" Step {i_step} finished in {(time.time() - start_time)} seconds\n")
if not any(issues_REHABed_twice.values()):
BRAG.all_issues_resolved(total_entries)
BRAG.see_fixed_file(
present_output(REHAB2_OUTPUT_FILE)
)
return
else:
BRAG.all_which_can_be_solved_is_resolved()
BRAG.see_fixed_file(
present_output(REHAB2_OUTPUT_FILE)
)
return
def diagnose(INPUT_GWAS_FILE: str, REPORT_DIR: str):
### PROCESS INPUT ###
INPUT_GWAS_FILE = str(INPUT_GWAS_FILE)
REPORT_DIR = str(REPORT_DIR)
JSON_CONFIG = INPUT_GWAS_FILE + '.json'
if not os.path.isfile(JSON_CONFIG):
JSON_CONFIG = 'standard'
### RUN ###
print(f'=== Diagnosis ===')
start_time = time.time()
validate_GWASSS_entries(
INPUT_GWAS_FILE,
JSON_CONFIG,
REPORT_DIR if REPORT_DIR and REPORT_DIR != 'None' else None,
)
print(f" Diagnosis finished in {(time.time() - start_time)} seconds\n")
return None
def sort(INPUT_GWAS_FILE: str, OUTPUT_FILE: str, SORT_BY: str):
### PROCESS INPUT ###
INPUT_GWAS_FILE = str(INPUT_GWAS_FILE)
OUTPUT_FILE = str(OUTPUT_FILE)
SORT_BY = str(SORT_BY)
FILE_TO_SORT = INPUT_GWAS_FILE
if os.path.isfile(INPUT_GWAS_FILE+".json"):
##### 1 #####
print(f'=== Format the GWAS SS file ===')
start_time = time.time()
FILE_TO_SORT = OUTPUT_FILE + ".unsorted.tsv"
prepare_GWASSS_columns(
INPUT_GWAS_FILE,
FILE_TO_SORT,
)
print(f" Formatting finished in {(time.time() - start_time)} seconds\n")
else:
print("there's no corresponding .json file, so STANDARD_COLUMN_ORDER is assumed")
##### 2 #####
print(f'=== Sorting the GWAS SS file by {SORT_BY} ===')
start_time = time.time()
if SORT_BY == 'rsID':
sort_GWASSS_by_rsID(
FILE_TO_SORT,
OUTPUT_FILE,
)
elif SORT_BY == 'ChrBP':
sort_GWASSS_by_ChrBP(
FILE_TO_SORT,
OUTPUT_FILE,
)
print(f" Sorting finished in {(time.time() - start_time)} seconds\n")
return None
def prepare_dbSNPs(SNPs_FILE: str, OUTPUT_FILE: str, gzsort: str, bcftools: str, buffer_size: str):
### PROCESS INPUT ###
SNPs_FILE = str(SNPs_FILE)
OUTPUT_FILE = str(OUTPUT_FILE)
gzsort = str(gzsort)
bcftools = str(bcftools)
buffer_size = str(buffer_size)
### RUN ###
prepare_two_dbSNPs(
SNPs_FILE,
gzsort,
bcftools,
buffer_size,
OUTPUT_FILE,
)
return None
# # # # # # # # # # # # # # # # # # # # # # # # # #
# #
# MAIN #
# #
# # # # # # # # # # # # # # # # # # # # # # # # # #
##### Custom arguments types #####
def GWASSS_path_type(string: str):
"""
A GWAS SS file must have a corresponding .json file:
a JSON object where column indices are specified and build
"""
if not os.path.isfile(string):
raise ValueError("No such file:", string)
if not os.path.isfile(string + '.json'):
raise ValueError("No such file:", string + '.json')
return string
def maybe_dir_type(string: str):
if not os.path.isdir(string) and os.path.exists(string):
raise ValueError("Unable to create directory at: ", string)
return string
def file_path_type(string: str):
if not os.path.isfile(string):
raise ValueError("No such file:", string)
return string
def maybe_file_path_type(string: str):
if not string or string.lower() in ('none', 'na', 'null'):
return None
if not os.path.isfile(string):
raise ValueError("No such file:", string)
return string
def main():
version = "1.1.1"
p = argparse.ArgumentParser(description='GWAS summary statistics QC tool')
p.prog = 'SumStatsRehab'
subparser = p.add_subparsers(dest='command')
FIX_PARSER = subparser.add_parser('fix', help="diagnoses and tries to fix the file")
PREPARE_DBSNPS_PARSER = subparser.add_parser('prepare_dbSNPs', help="prepares two DBs from the given dbSNP database. These two DBs are required for restoring rsID, chr, BP, alleles, and allele frequencies")
DIAGNOSE_PARSER = subparser.add_parser('diagnose', help="only diagnosis. Produce report to a directory or just pop up plots")
SORT_PARSER = subparser.add_parser('sort', help="sort GWAS SS file either by Chr:BP or rsID")
# fix.add_argument('-v', '--version', action='version', version='%(prog)s {}'.format(version))
FIX_PARSER.add_argument('--INPUT', dest='INPUT_GWAS_FILE', type=GWASSS_path_type, required=True,
help='Path to GWAS summary stats in tab-separated format (.tsv, .tsv.gz, .tsv.zip), with a config file at the same path with .json suffix')
FIX_PARSER.add_argument('--OUTPUT', dest='OUTPUT_FILE', type=pathlib.Path, required=True,
help='Output path for the final fixed file.\nIf --verbose key is set, then this name will be used as a base (prefix) for output file(s)')
FIX_PARSER.add_argument('--dbsnp-1', dest='dbSNP1_FILE', type=maybe_file_path_type, required=False, default='None',
help='Path to prepared dbSNP file #1 for the target build')
FIX_PARSER.add_argument('--dbsnp-2', dest='dbSNP2_FILE', type=maybe_file_path_type, required=False, default='None',
help='Path to prepared dbSNP file #2 for the target build')
FIX_PARSER.add_argument('--chain-file', dest='CHAIN_FILE', type=maybe_file_path_type, required=False, default='None',
help='Path to the chain file for liftover from the given build to GrCh38')
FIX_PARSER.add_argument('--freq-db', dest='FREQ_DATABASE_SLUG', type=str, required=False, default='dbGaP_PopFreq',
help='Population slug from frequency database in dbSNP (e.g.: "GnomAD", "dbGaP_PopFreq", "TOMMO", "1000Genomes", etc.). Default: "dbGaP_PopFreq"')
FIX_PARSER.add_argument('--restore', choices=resolvers_names, nargs='+',
help=f'Enable resotration of particular fields', required=False)
FIX_PARSER.add_argument('--do-not-restore', choices=resolvers_names, nargs='+',
help=f'Disable resotration of particular fields. By default, everything is enabled except "beta". This key takes priority over --restore', required=False)
FIX_PARSER.add_argument('--verbose', dest='VERBOSE', action='store_true',
help=f"If set, preserves all intermediate files and their diagnoses on all stages of fixing.\n" +
"The --OUTPUT key path will be used as a base name for the resulting files, and will not be the exact path to a file\n" +
"This key doesn't affect logging."
, required=False)
DIAGNOSE_PARSER.add_argument('--INPUT', dest='INPUT_GWAS_FILE', type=file_path_type, required=True,
help='Path to GWAS summary stats in tab-separated format (.tsv, .tsv.gz), with a config file at the same path with .json suffix. If the config file is absent, internal "STANDARD_COLUMN_ORDER" is assumed.')
DIAGNOSE_PARSER.add_argument('--REPORT-DIR', dest='REPORT_DIR', type=maybe_dir_type, required=False, default='None',
help='A directory where the report should be saved. If not specified, doesn\'t save the full report and pops up matplotlib plots instead')
SORT_PARSER.add_argument('--INPUT', dest='INPUT_GWAS_FILE', type=file_path_type, required=True,
help='Path to GWAS summary stats in tab-separated format (.tsv, .tsv.gz, .tsv.zip), with a config file at the same path with .json suffix. If the config file is absent, internal "STANDARD_COLUMN_ORDER" is assumed.')
SORT_PARSER.add_argument('--OUTPUT', dest='OUTPUT_FILE', type=pathlib.Path, required=True,
help='Output path. This name will be used as a base for output file(s)')
SORT_PARSER.add_argument('--by', dest='SORT_BY', choices=['rsID', 'ChrBP'], required=False, default='ChrBP',
help='How to sort. Default: by Chr and BP')
PREPARE_DBSNPS_PARSER.add_argument('--dbsnp', dest='DBSNP', type=file_path_type, required=True,
help='Path to dbSNP file (.vcf, .vcf.gz, .bcf, bcf.gz)')
PREPARE_DBSNPS_PARSER.add_argument('--OUTPUT', dest='OUTPUT', type=pathlib.Path, required=True,
help='Base name for the two prepared DBs')
PREPARE_DBSNPS_PARSER.add_argument('--gz-sort', dest='GZ_SORT', type=file_path_type, required=True,
help='Path to gz-sort executable. Get from: https://github.com/keenerd/gz-sort/')
PREPARE_DBSNPS_PARSER.add_argument('--bcftools', dest='BCFTOOLS', type=file_path_type, required=True,
help='Path to bcftools executable. Get from: http://samtools.github.io/bcftools/ (recommended version - 1.11)')
PREPARE_DBSNPS_PARSER.add_argument('--buffer', dest='BUFFER', type=str, required=False, default="1G",
help='Buffer size for sorting (size of presort), supports k/M/G suffix. Default: 1G. Recommended: at least 200M, ideally 4G or more')
args = p.parse_args()
if args.command:
print(f"{p.prog} v{version} - {args.command} command")
else:
print(f"{p.prog} v{version}")
if args.command == 'fix':
chosen_resolvers: Dict[ResolverName, bool] = {
"ChrBP": True,
"rsID": True,
"OA": True,
"EA": True,
"EAF": True,
"beta": False,
"SE": True,
"pval": True,
}
if args.restore:
for field in args.restore:
chosen_resolvers[field] = True
if args.do_not_restore:
for field in args.do_not_restore:
chosen_resolvers[field] = False
if chosen_resolvers['beta']:
WARN.beta_resolver_was_enabled()
fix(args.INPUT_GWAS_FILE, args.OUTPUT_FILE,
args.dbSNP1_FILE, args.dbSNP2_FILE, args.CHAIN_FILE, args.FREQ_DATABASE_SLUG,
chosen_resolvers, args.VERBOSE)
elif args.command == 'diagnose':
diagnose(args.INPUT_GWAS_FILE, args.REPORT_DIR)
elif args.command == 'sort':
sort(args.INPUT_GWAS_FILE, args.OUTPUT_FILE,
args.SORT_BY)
elif args.command == 'prepare_dbSNPs':
prepare_dbSNPs(args.DBSNP, args.OUTPUT,
args.GZ_SORT, args.BCFTOOLS, args.BUFFER)
else:
p.print_help(sys.stderr)
exit(1)
if __name__ == "__main__":
main()