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- from __future__ import division
- from glob import glob
- import sys, argparse, os
- import fileinput
- import re
- import pandas as pd
- from operator import itemgetter
- from collections import Counter
- from itertools import islice
- from numpy import *
- import statistics
-
- # input arguments
- parser = argparse.ArgumentParser(description="this script is to merge mendelian and vcfinfo, and extract high_confidence_calls")
-
- parser.add_argument('-prefix', '--prefix', type=str, help='prefix of output file', required=True)
- parser.add_argument('-vcf', '--vcf', type=str, help='merged multiple sample vcf', required=True)
-
-
- args = parser.parse_args()
- prefix = args.prefix
- vcf = args.vcf
-
- # input files
- vcf_dat = pd.read_table(vcf)
-
- # all info
- all_file_name = prefix + "_all_summary.txt"
- all_sample_outfile = open(all_file_name,'w')
- all_info_col = 'CHROM\tPOS\tREF\tALT\tLCL5_consensus_calls\tLCL5_detect_number\tLCL5_same_diff\tLCL6_consensus_calls\tLCL6_detect_number\tLCl6_same_diff\tLCL7_consensus_calls\tLCL7_detect_number\tLCL7_same_diff\tLCL8_consensus_calls\tLCL8_detect_number\tLCL8_same_diff\n'
- all_sample_outfile.write(all_info_col)
-
- # filtered info
- vcf_header = '''##fileformat=VCFv4.2
- ##fileDate=20200501
- ##source=high_confidence_calls_intergration(choppy app)
- ##reference=GRCh38.d1.vd1
- ##INFO=<ID=VOTED,Number=1,Type=Integer,Description="Number mendelian consisitent votes">
- ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
- ##contig=<ID=chr1,length=248956422>
- ##contig=<ID=chr2,length=242193529>
- ##contig=<ID=chr3,length=198295559>
- ##contig=<ID=chr4,length=190214555>
- ##contig=<ID=chr5,length=181538259>
- ##contig=<ID=chr6,length=170805979>
- ##contig=<ID=chr7,length=159345973>
- ##contig=<ID=chr8,length=145138636>
- ##contig=<ID=chr9,length=138394717>
- ##contig=<ID=chr10,length=133797422>
- ##contig=<ID=chr11,length=135086622>
- ##contig=<ID=chr12,length=133275309>
- ##contig=<ID=chr13,length=114364328>
- ##contig=<ID=chr14,length=107043718>
- ##contig=<ID=chr15,length=101991189>
- ##contig=<ID=chr16,length=90338345>
- ##contig=<ID=chr17,length=83257441>
- ##contig=<ID=chr18,length=80373285>
- ##contig=<ID=chr19,length=58617616>
- ##contig=<ID=chr20,length=64444167>
- ##contig=<ID=chr21,length=46709983>
- ##contig=<ID=chr22,length=50818468>
- ##contig=<ID=chrX,length=156040895>
- '''
- consensus_file_name = prefix + "_consensus.vcf"
- consensus_outfile = open(consensus_file_name,'w')
- consensus_col = '#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\tLCL5_consensus_call\tLCL6_consensus_call\tLCL7_consensus_call\tLCL8_consensus_call\n'
- consensus_outfile.write(vcf_header)
- consensus_outfile.write(consensus_col)
-
- # function
- def decide_by_rep(vcf_list):
- consensus_rep = ''
- gt = [x.split(':')[0] for x in vcf_list]
- gt_num_dict = Counter(gt)
- highest_gt = gt_num_dict.most_common(1)
- candidate_gt = highest_gt[0][0]
- freq_gt = highest_gt[0][1]
- if freq_gt >= 2:
- consensus_rep = candidate_gt
- else:
- consensus_rep = 'inconGT'
- return consensus_rep
-
- def consensus_call(vcf_info_list):
- consensus_call = '.'
- detect_number = '.'
- same_diff = '.'
- # pcr
- SEQ2000 = decide_by_rep(vcf_info_list[0:3])
- XTen_ARD = decide_by_rep(vcf_info_list[18:21])
- XTen_NVG = decide_by_rep(vcf_info_list[21:24])
- XTen_WUX = decide_by_rep(vcf_info_list[24:27])
- Nova_WUX = decide_by_rep(vcf_info_list[15:18])
- pcr_sequence_site = [SEQ2000,XTen_ARD,XTen_NVG,XTen_WUX,Nova_WUX]
- pcr_sequence_dict = Counter(pcr_sequence_site)
- pcr_highest_sequence = pcr_sequence_dict.most_common(1)
- pcr_candidate_sequence = pcr_highest_sequence[0][0]
- pcr_freq_sequence = pcr_highest_sequence[0][1]
- if pcr_freq_sequence > 3:
- pcr_consensus = pcr_candidate_sequence
- else:
- pcr_consensus = 'inconSequenceSite'
- # pcr-free
- T7_WGE = decide_by_rep(vcf_info_list[3:6])
- Nova_ARD_1 = decide_by_rep(vcf_info_list[6:9])
- Nova_ARD_2 = decide_by_rep(vcf_info_list[9:12])
- Nova_BRG = decide_by_rep(vcf_info_list[12:15])
- sequence_site = [T7_WGE,Nova_ARD_1,Nova_ARD_2,Nova_BRG]
- sequence_dict = Counter(sequence_site)
- highest_sequence = sequence_dict.most_common(1)
- candidate_sequence = highest_sequence[0][0]
- freq_sequence = highest_sequence[0][1]
- if freq_sequence > 2:
- pcr_free_consensus = candidate_sequence
- else:
- pcr_free_consensus = 'inconSequenceSite'
- gt = [x.split(':')[0] for x in vcf_info_list]
- gt = [x.replace('./.','.') for x in gt]
- detected_num = 27 - gt.count('.')
- gt_remain = [e for e in gt if e not in {'.'}]
- gt_set = set(gt_remain)
- if len(gt_set) == 1:
- same_diff = 'same'
- else:
- same_diff = 'diff'
- tag = ['inconGT','inconSequenceSite']
- if (pcr_consensus == pcr_free_consensus) and (pcr_consensus not in tag):
- consensus_call = pcr_consensus
- elif (pcr_consensus in tag) and (pcr_free_consensus in tag):
- consensus_call = 'notAgree'
-
- else:
- consensus_call = 'notConsensus'
- return consensus_call, detected_num, same_diff
-
- elif (pcr_consensus in tag) and (pcr_free_consensus in tag):
- consensus_call = 'filtered'
- elif ((pcr_consensus == './.') or (pcr_consensus in tag)) and ((pcr_free_consensus not in tag) and (pcr_free_consensus != './.')):
- consensus_call = 'pcr-free-speicifc'
- elif ((pcr_consensus != './.') or (pcr_consensus not in tag)) and ((pcr_free_consensus in tag) and (pcr_free_consensus == './.')):
- consensus_call = 'pcr-speicifc'
- elif (pcr_consensus == '0/0') and (pcr_free_consensus == '0/0'):
- consensus_call = '0/0'
- else:
- consensus_call = 'filtered'
-
-
- for row in vcf_dat.itertuples():
- # length
- #alt
- if ',' in row.ALT:
- alt = row.ALT.split(',')
- alt_len = [len(i) for i in alt]
- alt_max = max(alt_len)
- else:
- alt_max = len(row.ALT)
- #ref
- ref_len = len(row.REF)
- if (alt_max > 50) or (ref_len > 50):
- pass
- else:
- # consensus
- lcl5_list = [row.Quartet_DNA_BGI_SEQ2000_BGI_LCL5_1_20180518,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL5_2_20180530,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL5_3_20180530, \
- row.Quartet_DNA_BGI_T7_WGE_LCL5_1_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL5_2_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL5_3_20191105, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL5_1_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL5_2_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL5_3_20181108, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL5_4_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL5_5_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL5_6_20190111, \
- row.Quartet_DNA_ILM_Nova_BRG_LCL5_1_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL5_2_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL5_3_20180930, \
- row.Quartet_DNA_ILM_Nova_WUX_LCL5_1_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL5_2_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL5_3_20190917, \
- row.Quartet_DNA_ILM_XTen_ARD_LCL5_1_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL5_2_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL5_3_20170403, \
- row.Quartet_DNA_ILM_XTen_NVG_LCL5_1_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL5_2_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL5_3_20170329, \
- row.Quartet_DNA_ILM_XTen_WUX_LCL5_1_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL5_2_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL5_3_20170216]
- lcl6_list = [row.Quartet_DNA_BGI_SEQ2000_BGI_LCL6_1_20180518,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL6_2_20180530,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL6_3_20180530, \
- row.Quartet_DNA_BGI_T7_WGE_LCL6_1_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL6_2_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL6_3_20191105, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL6_1_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL6_2_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL6_3_20181108, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL6_4_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL6_5_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL6_6_20190111, \
- row.Quartet_DNA_ILM_Nova_BRG_LCL6_1_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL6_2_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL6_3_20180930, \
- row.Quartet_DNA_ILM_Nova_WUX_LCL6_1_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL6_2_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL6_3_20190917, \
- row.Quartet_DNA_ILM_XTen_ARD_LCL6_1_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL6_2_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL6_3_20170403, \
- row.Quartet_DNA_ILM_XTen_NVG_LCL6_1_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL6_2_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL6_3_20170329, \
- row.Quartet_DNA_ILM_XTen_WUX_LCL6_1_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL6_2_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL6_3_20170216]
- lcl7_list = [row.Quartet_DNA_BGI_SEQ2000_BGI_LCL7_1_20180518,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL7_2_20180530,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL7_3_20180530, \
- row.Quartet_DNA_BGI_T7_WGE_LCL7_1_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL7_2_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL7_3_20191105, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL7_1_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL7_2_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL7_3_20181108, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL7_4_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL7_5_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL7_6_20190111, \
- row.Quartet_DNA_ILM_Nova_BRG_LCL7_1_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL7_2_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL7_3_20180930, \
- row.Quartet_DNA_ILM_Nova_WUX_LCL7_1_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL7_2_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL7_3_20190917, \
- row.Quartet_DNA_ILM_XTen_ARD_LCL7_1_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL7_2_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL7_3_20170403, \
- row.Quartet_DNA_ILM_XTen_NVG_LCL7_1_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL7_2_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL7_3_20170329, \
- row.Quartet_DNA_ILM_XTen_WUX_LCL7_1_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL7_2_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL7_3_20170216]
- lcl8_list = [row.Quartet_DNA_BGI_SEQ2000_BGI_LCL8_1_20180518,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL8_2_20180530,row.Quartet_DNA_BGI_SEQ2000_BGI_LCL8_3_20180530, \
- row.Quartet_DNA_BGI_T7_WGE_LCL8_1_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL8_2_20191105,row.Quartet_DNA_BGI_T7_WGE_LCL8_3_20191105, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL8_1_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL8_2_20181108,row.Quartet_DNA_ILM_Nova_ARD_LCL8_3_20181108, \
- row.Quartet_DNA_ILM_Nova_ARD_LCL8_4_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL8_5_20190111,row.Quartet_DNA_ILM_Nova_ARD_LCL8_6_20190111, \
- row.Quartet_DNA_ILM_Nova_BRG_LCL8_1_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL8_2_20180930,row.Quartet_DNA_ILM_Nova_BRG_LCL8_3_20180930, \
- row.Quartet_DNA_ILM_Nova_WUX_LCL8_1_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL8_2_20190917,row.Quartet_DNA_ILM_Nova_WUX_LCL8_3_20190917, \
- row.Quartet_DNA_ILM_XTen_ARD_LCL8_1_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL8_2_20170403,row.Quartet_DNA_ILM_XTen_ARD_LCL8_3_20170403, \
- row.Quartet_DNA_ILM_XTen_NVG_LCL8_1_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL8_2_20170329,row.Quartet_DNA_ILM_XTen_NVG_LCL8_3_20170329, \
- row.Quartet_DNA_ILM_XTen_WUX_LCL8_1_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL8_2_20170216,row.Quartet_DNA_ILM_XTen_WUX_LCL8_3_20170216]
- # LCL5
- LCL5_consensus_call, LCL5_detected_num, LCL5_same_diff = consensus_call(lcl5_list)
- # LCL6
- LCL6_consensus_call, LCL6_detected_num, LCL6_same_diff = consensus_call(lcl6_list)
- # LCL7
- LCL7_consensus_call, LCL7_detected_num, LCL7_same_diff = consensus_call(lcl7_list)
- # LCL8
- LCL8_consensus_call, LCL8_detected_num, LCL8_same_diff = consensus_call(lcl8_list)
- # all data
- all_output = row._1 + '\t' + str(row.POS) + '\t' + row.REF + '\t' + row.ALT + '\t' + LCL5_consensus_call + '\t' + str(LCL5_detected_num) + '\t' + LCL5_same_diff + '\t' +\
- LCL6_consensus_call + '\t' + str(LCL6_detected_num) + '\t' + LCL6_same_diff + '\t' +\
- LCL7_consensus_call + '\t' + str(LCL7_detected_num) + '\t' + LCL7_same_diff + '\t' +\
- LCL8_consensus_call + '\t' + str(LCL8_detected_num) + '\t' + LCL8_same_diff + '\n'
- all_sample_outfile.write(all_output)
- #consensus vcf
- one_position = [LCL5_consensus_call,LCL6_consensus_call,LCL7_consensus_call,LCL8_consensus_call]
- if ('notConsensus' in one_position) or (((len(set(one_position)) == 1) and ('./.' in set(one_position))) or ((len(set(one_position)) == 1) and ('0/0' in set(one_position))) or ((len(set(one_position)) == 2) and ('0/0' in set(one_position) and ('./.' in set(one_position))))):
- pass
- else:
- consensus_output = row._1 + '\t' + str(row.POS) + '\t' + '.' + '\t' + row.REF + '\t' + row.ALT + '\t' + '.' + '\t' + '.' + '\t' +'.' + '\t' + 'GT' + '\t' + LCL5_consensus_call + '\t' + LCL6_consensus_call + '\t' + LCL7_consensus_call + '\t' + LCL8_consensus_call +'\n'
- consensus_outfile.write(consensus_output)
-
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