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votes

master
LUYAO REN 5 年之前
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34a35ddc5f
共有 5 個文件被更改,包括 357 次插入15 次删除
  1. +25
    -3
      codescripts/merge_two_family.py
  2. +295
    -0
      codescripts/voted_by_vcfinfo_mendelianinfo.py
  3. +4
    -4
      inputs
  4. +22
    -7
      tasks/votes.wdl
  5. +11
    -1
      workflow.wdl

+ 25
- 3
codescripts/merge_two_family.py 查看文件

@@ -29,12 +29,34 @@ lcl6_dat = pd.read_table(lcl6)

merged_df = pd.merge(lcl5_dat, lcl6_dat, how='outer', left_on=['#CHROM','POS'], right_on = ['#CHROM','POS'])

def alt_seq(alt, genotype):
if genotype == './.':
seq = './.'
elif genotype == '0/0':
seq = '0/0'
else:
alt = alt.split(',')
genotype = genotype.split('/')
if genotype[0] == '0':
allele2 = alt[int(genotype[1]) - 1]
seq = '0/' + allele2
else:
allele1 = alt[int(genotype[0]) - 1]
allele2 = alt[int(genotype[1]) - 1]
seq = allele1 + '/' + allele2
return seq

for row in merged_df.itertuples():
if row.CHILD_x == row.CHILD_y:
mendelian = '1'
# correction of multiallele
if pd.isnull(row.INFO_x) == True or pd.isnull(row.INFO_y) == True:
mendelian = '.'
else:
mendelian = '0'
lcl5_seq = alt_seq(row.ALT_x, row.CHILD_x)
lcl6_seq = alt_seq(row.ALT_y, row.CHILD_y)
if lcl5_seq == lcl6_seq:
mendelian = '1'
else:
mendelian = '0'
if pd.isnull(row.INFO_x) == True:
mendelian = mendelian + ':.'
else:

+ 295
- 0
codescripts/voted_by_vcfinfo_mendelianinfo.py 查看文件

@@ -0,0 +1,295 @@
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('-folder', '--folder', type=str, help='directory that holds all the mendelian info', required=True)
parser.add_argument('-vcf', '--vcf', type=str, help='merged multiple sample vcf', required=True)


args = parser.parse_args()
folder = args.folder
vcf = args.vcf

# input files
folder = folder + '/*.txt'
filenames = glob(folder)
dataframes = []
for filename in filenames:
dataframes.append(pd.read_table(filename,header=None))

dfs = [df.set_index([0, 1]) for df in dataframes]
merged_mendelian = pd.concat(dfs, axis=1).reset_index()
family_name = [i.split('/')[-1].replace('.txt','') for i in filenames]
columns = ['CHROM','POS'] + family_name
merged_mendelian.columns = columns

vcf_dat = pd.read_table(vcf)

merged_df = pd.merge(merged_mendelian, vcf_dat, how='outer', left_on=['CHROM','POS'], right_on = ['#CHROM','POS'])
merged_df = merged_df.fillna('nan')

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">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Sum depth of all samples">
##FORMAT=<ID=ALT,Number=1,Type=Integer,Description="Sum alternative depth of all samples">
##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>
'''
# output files
benchmark_LCL5 = open('LCL5_voted.vcf','w')
benchmark_LCL6 = open('LCL6_voted.vcf','w')
benchmark_LCL7 = open('LCL7_voted.vcf','w')
benchmark_LCL8 = open('LCL8_voted.vcf','w')

all_sample_outfile = open('all_sample_information.txt','w')

# write VCF
LCL5_col = '#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\t LCL5_benchmark_calls\n'
LCL6_col = '#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\t LCL6_benchmark_calls\n'
LCL7_col = '#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\t LCL7_benchmark_calls\n'
LCL8_col = '#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\t LCL8_benchmark_calls\n'

benchmark_LCL5.write(vcf_header)
benchmark_LCL5.write(LCL5_col)
benchmark_LCL6.write(vcf_header)
benchmark_LCL6.write(LCL6_col)
benchmark_LCL7.write(vcf_header)
benchmark_LCL7.write(LCL7_col)
benchmark_LCL8.write(vcf_header)
benchmark_LCL8.write(LCL8_col)

# all info
all_info_col = 'CHROM\tPOS\tLCL5_pcr_consensus\tLCL5_pcr_free_consensus\tLCL5_mendelian_num\tLCL5_consensus_call\tLCL5_consensus_alt_seq\tLCL5_alt\tLCL5_dp\tLCL5_detected_num\tLCL6_pcr_consensus\tLCL6_pcr_free_consensus\tLCL6_mendelian_num\tLCL6_consensus_call\tLCL6_consensus_alt_seq\tLCL6_alt\tLCL6_dp\tLCL6_detected_num\tLCL7_pcr_consensus\tLCL7_pcr_free_consensus\tLCL7_mendelian_num\t LCL7_consensus_call\tLCL7_consensus_alt_seq\tLCL7_alt\tLCL7_dp\tLCL7_detected_num\tLCL8_pcr_consensus\tLCL8_pcr_free_consensus\tLCL8_mendelian_num\tLCL8_consensus_call\tLCL8_consensus_alt_seq\tLCL8_alt\tLCL8_dp\tLCL8_detected_num\n'
all_sample_outfile.write(all_info_col)

# function
def decide_by_rep(vcf_list,mendelian_list):
consensus_rep = ''
gt = [x.split(':')[0] for x in vcf_list]
# mendelian consistent?
mendelian_dict = Counter(mendelian_list)
highest_mendelian = mendelian_dict.most_common(1)
candidate_mendelian = highest_mendelian[0][0]
freq_mendelian = highest_mendelian[0][1]
if (candidate_mendelian == '1:1:1') and (freq_mendelian >= 2):
con_loc = [i for i in range(len(mendelian_list)) if mendelian_list[i] == '1:1:1']
gt_con = itemgetter(*con_loc)(gt)
gt_num_dict = Counter(gt_con)
highest_gt = gt_num_dict.most_common(1)
candidate_gt = highest_gt[0][0]
freq_gt = highest_gt[0][1]
if (candidate_gt != './.') and (freq_gt >= 2):
consensus_rep = candidate_gt
elif (candidate_gt == './.') and (freq_gt >= 2):
consensus_rep = 'noGTInfo'
else:
consensus_rep = 'inconGT'
elif (candidate_mendelian == 'nan') and (freq_mendelian >= 2):
consensus_rep = 'noMenInfo'
else:
consensus_rep = 'inconMen'
return consensus_rep

def consensus_call(vcf_info_list,mendelian_list,alt_seq):
pcr_consensus = '.'
pcr_free_consensus = '.'
mendelian_num = '.'
consensus_call = '.'
consensus_alt_seq = '.'
# pcr
SEQ2000 = decide_by_rep(vcf_info_list[0:3],mendelian_list[0:3])
XTen_ARD = decide_by_rep(vcf_info_list[18:21],mendelian_list[18:21])
XTen_NVG = decide_by_rep(vcf_info_list[21:24],mendelian_list[21:24])
XTen_WUX = decide_by_rep(vcf_info_list[24:27],mendelian_list[24:27])
pcr_sequence_site = [SEQ2000,XTen_ARD,XTen_NVG,XTen_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 > 2:
pcr_consensus = pcr_candidate_sequence
else:
pcr_consensus = 'inconSequenceSite'
# pcr-free
T7_WGE = decide_by_rep(vcf_info_list[3:6],mendelian_list[3:6])
Nova_ARD_1 = decide_by_rep(vcf_info_list[6:9],mendelian_list[6:9])
Nova_ARD_2 = decide_by_rep(vcf_info_list[9:12],mendelian_list[9:12])
Nova_BRG = decide_by_rep(vcf_info_list[12:15],mendelian_list[12:15])
Nova_WUX = decide_by_rep(vcf_info_list[15:18],mendelian_list[15:18])
sequence_site = [T7_WGE,Nova_ARD_1,Nova_ARD_2,Nova_BRG,Nova_WUX]
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 > 3:
pcr_free_consensus = candidate_sequence
else:
pcr_free_consensus = 'inconSequenceSite'
# net alt, dp
# alt
AD = [x.split(':')[1] for x in vcf_info_list]
ALT = [x.split(',')[1] for x in AD]
ALT = [int(x) for x in ALT]
ALL_ALT = sum(ALT)
# dp
DP = [x.split(':')[2] for x in vcf_info_list]
DP = [int(x) for x in DP]
ALL_DP = sum(DP)
# detected number
gt = [x.split(':')[0] for x in vcf_info_list]
gt = [x.replace('0/0','.') for x in gt]
gt = [x.replace('./.','.') for x in gt]
detected_num = 27 - gt.count('.')
# decide consensus calls
tag = ['inconGT','noMenInfo','inconMen','inconSequenceSite','noGTInfo']
if (pcr_consensus != '0/0') and (pcr_consensus == pcr_free_consensus) and (pcr_consensus not in tag):
consensus_call = pcr_consensus
gt = [x.split(':')[0] for x in vcf_info_list]
indices = [i for i, x in enumerate(gt) if x == consensus_call]
matched_mendelian = itemgetter(*indices)(mendelian_list)
mendelian_num = matched_mendelian.count('1:1:1')
# Delete multiple alternative genotype to necessary expression
alt_gt = alt_seq.split(',')
if len(alt_gt) > 1:
allele1 = consensus_call.split('/')[0]
allele2 = consensus_call.split('/')[1]
if allele1 == '0':
allele2_seq = alt_gt[int(allele2) - 1]
consensus_alt_seq = allele2_seq
consensus_call = '0/1'
else:
allele1_seq = alt_gt[int(allele1) - 1]
allele2_seq = alt_gt[int(allele2) - 1]
if int(allele1) > int(allele2):
consensus_alt_seq = allele2_seq + ',' + allele1_seq
consensus_call = '1/2'
elif int(allele1) < int(allele2):
consensus_alt_seq = allele1_seq + ',' + allele2_seq
consensus_call = '1/2'
else:
consensus_alt_seq = allele1_seq
consensus_call = '1/1'
else:
consensus_alt_seq = alt_seq
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 = 'confirm for parents'
else:
consensus_call = 'filtered'
return pcr_consensus, pcr_free_consensus, mendelian_num, consensus_call, consensus_alt_seq, ALL_ALT, ALL_DP, detected_num


for row in merged_df.itertuples():
mendelian_list = [row.Quartet_DNA_BGI_SEQ2000_BGI_1_20180518,row.Quartet_DNA_BGI_SEQ2000_BGI_2_20180530,row.Quartet_DNA_BGI_SEQ2000_BGI_3_20180530, \
row.Quartet_DNA_BGI_T7_WGE_1_20191105,row.Quartet_DNA_BGI_T7_WGE_2_20191105,row.Quartet_DNA_BGI_T7_WGE_3_20191105, \
row.Quartet_DNA_ILM_Nova_ARD_1_20181108,row.Quartet_DNA_ILM_Nova_ARD_2_20181108,row.Quartet_DNA_ILM_Nova_ARD_3_20181108, \
row.Quartet_DNA_ILM_Nova_ARD_4_20190111,row.Quartet_DNA_ILM_Nova_ARD_5_20190111,row.Quartet_DNA_ILM_Nova_ARD_6_20190111, \
row.Quartet_DNA_ILM_Nova_BRG_1_20180930,row.Quartet_DNA_ILM_Nova_BRG_2_20180930,row.Quartet_DNA_ILM_Nova_BRG_3_20180930, \
row.Quartet_DNA_ILM_Nova_WUX_1_20190917,row.Quartet_DNA_ILM_Nova_WUX_2_20190917,row.Quartet_DNA_ILM_Nova_WUX_3_20190917, \
row.Quartet_DNA_ILM_XTen_ARD_1_20170403,row.Quartet_DNA_ILM_XTen_ARD_2_20170403,row.Quartet_DNA_ILM_XTen_ARD_3_20170403, \
row.Quartet_DNA_ILM_XTen_NVG_1_20170329,row.Quartet_DNA_ILM_XTen_NVG_2_20170329,row.Quartet_DNA_ILM_XTen_NVG_3_20170329, \
row.Quartet_DNA_ILM_XTen_WUX_1_20170216,row.Quartet_DNA_ILM_XTen_WUX_2_20170216,row.Quartet_DNA_ILM_XTen_WUX_3_20170216]
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_pcr_consensus, LCL5_pcr_free_consensus, LCL5_mendelian_num, LCL5_consensus_call, LCL5_consensus_alt_seq, LCL5_alt, LCL5_dp, LCL5_detected_num = consensus_call(lcl5_list,mendelian_list,row.ALT)
if LCL5_mendelian_num != '.':
LCL5_output = row.CHROM + '\t' + str(row.POS) + '\t' + '.' + '\t' + row.REF + '\t' + LCL5_consensus_alt_seq + '\t' + '.' + '\t' + '.' + '\t' +'VOTED=' + str(LCL5_mendelian_num) + '\t' + 'GT:ALT:DP' + '\t' + LCL5_consensus_call + ':' + str(LCL5_alt) + ':' + str(LCL5_dp) + '\n'
benchmark_LCL5.write(LCL5_output)
# LCL6
LCL6_pcr_consensus, LCL6_pcr_free_consensus, LCL6_mendelian_num, LCL6_consensus_call, LCL6_consensus_alt_seq, LCL6_alt, LCL6_dp, LCL6_detected_num = consensus_call(lcl6_list,mendelian_list,row.ALT)
if LCL6_mendelian_num != '.':
LCL6_output = row.CHROM + '\t' + str(row.POS) + '\t' + '.' + '\t' + row.REF + '\t' + LCL6_consensus_alt_seq + '\t' + '.' + '\t' + '.' + '\t' +'VOTED=' + str(LCL6_mendelian_num) + '\t' + 'GT:ALT:DP' + '\t' + LCL6_consensus_call + ':' + str(LCL6_alt) + ':' + str(LCL6_dp) + '\n'
benchmark_LCL6.write(LCL6_output)
# LCL7
LCL7_pcr_consensus, LCL7_pcr_free_consensus, LCL7_mendelian_num, LCL7_consensus_call, LCL7_consensus_alt_seq, LCL7_alt, LCL7_dp, LCL7_detected_num = consensus_call(lcl7_list,mendelian_list,row.ALT)
if LCL7_mendelian_num != '.':
LCL7_output = row.CHROM + '\t' + str(row.POS) + '\t' + '.' + '\t' + row.REF + '\t' + LCL7_consensus_alt_seq + '\t' + '.' + '\t' + '.' + '\t' +'VOTED=' + str(LCL7_mendelian_num) + '\t' + 'GT:ALT:DP' + '\t' + LCL7_consensus_call + ':' + str(LCL7_alt) + ':' + str(LCL7_dp) + '\n'
benchmark_LCL7.write(LCL7_output)
# LCL8
LCL8_pcr_consensus, LCL8_pcr_free_consensus, LCL8_mendelian_num, LCL8_consensus_call, LCL8_consensus_alt_seq, LCL8_alt, LCL8_dp, LCL8_detected_num = consensus_call(lcl8_list,mendelian_list,row.ALT)
if LCL8_mendelian_num != '.':
LCL8_output = row.CHROM + '\t' + str(row.POS) + '\t' + '.' + '\t' + row.REF + '\t' + LCL8_consensus_alt_seq + '\t' + '.' + '\t' + '.' + '\t' +'VOTED=' + str(LCL8_mendelian_num) + '\t' + 'GT:ALT:DP' + '\t' + LCL8_consensus_call + ':' + str(LCL8_alt) + ':' + str(LCL8_dp) + '\n'
benchmark_LCL8.write(LCL8_output)
# all data
all_output = row.CHROM + '\t' + str(row.POS) + '\t' + LCL5_pcr_consensus + '\t' + LCL5_pcr_free_consensus + '\t' + str(LCL5_mendelian_num) + '\t' + LCL5_consensus_call + '\t' + LCL5_consensus_alt_seq + '\t' + str(LCL5_alt) + '\t' + str(LCL5_dp) + '\t' + str(LCL5_detected_num) + '\t' +\
LCL6_pcr_consensus + '\t' + LCL6_pcr_free_consensus + '\t' + str(LCL6_mendelian_num) + '\t' + LCL6_consensus_call + '\t' + LCL6_consensus_alt_seq + '\t' + str(LCL6_alt) + '\t' + str(LCL6_dp) + '\t' + str(LCL6_detected_num) + '\t' +\
LCL7_pcr_consensus + '\t' + LCL7_pcr_free_consensus + '\t' + str(LCL7_mendelian_num) + '\t' + LCL7_consensus_call + '\t' + LCL7_consensus_alt_seq + '\t' + str(LCL7_alt) + '\t' + str(LCL7_dp) + '\t' + str(LCL7_detected_num) + '\t' +\
LCL8_pcr_consensus + '\t' + LCL8_pcr_free_consensus + '\t' + str(LCL8_mendelian_num) + '\t' + LCL8_consensus_call + '\t' + LCL8_consensus_alt_seq + '\t' + str(LCL8_alt) + '\t' + str(LCL8_dp) + '\t' + str(LCL8_detected_num) + '\n'
all_sample_outfile.write(all_output)


+ 4
- 4
inputs 查看文件

@@ -4,10 +4,10 @@
"{{ project_name }}.LCL6mendelian.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1",
"{{ project_name }}.LCL5mendelian.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/vbt:v1.1",
"{{ project_name }}.disk_size": "150",
"{{ project_name }}.chromo": "{{ chromo }}",
"{{ project_name }}.inputSamplesFile": "{{ inputSamplesFile }}",
"{{ project_name }}.votes.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/high_confidence_call_manuscript:v1.2",
"{{ project_name }}.cluster_config": "OnDemand bcs.b4.xlarge img-ubuntu-vpc",
"{{ project_name }}.vcf": "{{ vcf }}",
"{{ project_name }}.ref_dir": "oss://chinese-quartet/quartet-storage-data/reference_data/"
}



}

+ 22
- 7
tasks/votes.wdl 查看文件

@@ -1,14 +1,26 @@
task votes {
File repeat_annotated_vcf
File vcf_dup
String sample
String prefix
Array[File] family_mendelian_info
File vcf
String chromo
String docker
String cluster_config
String disk_size
command <<<
python /opt/high_confidence_call_vote.py -vcf ${repeat_annotated_vcf} -dup ${vcf_dup} -sample ${sample} -prefix ${prefix}
mkdir temp
for i in ${sep=" " family_mendelian_info}
do
cp $i temp
done

cat ${vcf} | grep -v '##' > vcf_info.txt

python /opt/voted_by_vcfinfo_mendelianinfo.py -folder ./temp -vcf vcf_info.txt

cp LCL5_voted.vcf LCL5.$chromo}voted.vcf
cp LCL6_voted.vcf LCL6.$chromo}voted.vcf
cp LCL7_voted.vcf LCL7.$chromo}voted.vcf
cp LCL8_voted.vcf LCL8.$chromo}voted.vcf

>>>

@@ -19,8 +31,11 @@ task votes {
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}
output {
File voted_vcf = "${prefix}_voted.vcf"
File all_sample_vcf = "${prefix}_all_sample_information.vcf"
File LCL5_voted_vcf = "LCL5.$chromo}voted.vcf"
File LCL6_voted_vcf = "LCL6.$chromo}voted.vcf"
File LCL7_voted_vcf = "LCL7.$chromo}voted.vcf"
File LCL8_voted_vcf = "LCL8.$chromo}voted.vcf"
File all_sample_info = "all_sample_information.txt"
}
}


+ 11
- 1
workflow.wdl 查看文件

@@ -1,11 +1,13 @@
import "./tasks/mendelian.wdl" as mendelian
import "./tasks/two_family_merge.wdl" as two_family_merge
import "./tasks/votes.wdl" as votes

workflow {{ project_name }} {
File inputSamplesFile
Array[Array[File]] inputSamples = read_tsv(inputSamplesFile)
File ref_dir
File vcf
String chromo
String fasta
String cluster_config
String disk_size
@@ -46,4 +48,12 @@ workflow {{ project_name }} {
disk_size=disk_size
}
}
call votes.votes as votes {
input:
family_mendelian_info=two_family_merge.family_mendelian_info,
vcf=vcf,
chromo=chromo,
cluster_config=cluster_config,
disk_size=disk_size
}
}

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