#!/usr/bin/env python3 import os import sys import math def get_total_CN(cov_file): all_reg = [] for line in open(cov_file, "r"): line = line.strip().split() all_reg.append(line) av_2d6_cov = float(all_reg[2][3])/(float(all_reg[2][2]) - float(all_reg[2][1])) av_vdr_cov = float(all_reg[3][3])/(float(all_reg[3][2]) - float(all_reg[3][1])) av_in1_3pr = float(all_reg[1][3])/(float(all_reg[1][2]) - float(all_reg[1][1])) av_ex9_3pr = float(all_reg[0][3])/(float(all_reg[0][2]) - float(all_reg[0][1])) av_in4_3pr = float(all_reg[4][3])/(float(all_reg[4][2]) - float(all_reg[4][1])) av_5pr_in4 = float(all_reg[5][3])/(float(all_reg[5][2]) - float(all_reg[5][1])) av_2d7_ex9 = float(all_reg[6][3])/(float(all_reg[6][2]) - float(all_reg[6][1])) av_2d7_in4_in8 = float(all_reg[7][3])/(float(all_reg[7][2]) - float(all_reg[7][1])) av_egfr_cov = float(all_reg[8][3])/(float(all_reg[8][2]) - float(all_reg[8][1])) av_2d7_ex2_in8 = float(all_reg[9][3])/(float(all_reg[9][2]) - float(all_reg[9][1])) av_2d7_5pr_in1 = float(all_reg[10][3])/(float(all_reg[10][2]) - float(all_reg[10][1])) av_ctrl_cov = (av_vdr_cov + av_egfr_cov)/2 comp_av = av_2d6_cov/av_ctrl_cov temp_cn = 2 * comp_av total_cn = round(temp_cn) in1_3pr = round(2 * av_in1_3pr/av_ctrl_cov) ex9_3pr = (2 * av_ex9_3pr/av_ctrl_cov) return [str(int(total_cn)), round(av_2d6_cov), str(int(in1_3pr)), round(av_ctrl_cov), str(ex9_3pr), round(av_in1_3pr), str(av_in4_3pr), str(av_5pr_in4), str(av_2d7_ex9), str(av_2d7_in4_in8), str(av_2d7_ex2_in8), str(av_2d7_5pr_in1)]; samp_gt = "" samp_gt_hap1 = "" def del_test(sv_del): if os.stat(sv_del).st_size == 0: return "None" else: for line in open(sv_del, "r"): if "COVERAGE" in line: line = line.strip().split() ABHom = line[-1] ABHet = line[-2] GT = line[2] DP = int(line[3]) if float(ABHom) == 1.0: return "*5/*5" elif float(ABHom) == -1.0: return "*5" else: pass hap_adv_list = [] hap_t1 = [] def del_adv_test(hap_dbs, cand_allele1, cand_allele2, test_allele1, test_allele2, core_vars): g = open(hap_dbs, "r") for line in g: line = line.strip().split() hap_adv_list.append(line) a1 = core_vars.split(";") for i in a1: if i[-3:] == "0/1": hap_t1.append(i[:-4]) for elem in hap_adv_list: if elem[1] == cand_allele1: list_t1 = (elem[2]).split(';') if elem[1] == cand_allele2: list_t2 = (elem[2]).split(';') if hap_t1[0] in list_t1: return test_allele1 elif hap_t1[0] in list_t2: return test_allele2 het_hom_list = [] het_hom_list_new = [] def dup_test_init(sv_dup, av_cov): for line in open(sv_dup, "r"): if "COVERAGE" in line: continue elif "AGGREGATED" in line: continue else: fields = line.strip().split() het_hom_list.append(fields) test_list1 = [] for i in het_hom_list: test_list1.append(int(i[2])) av_read_cov = sum(test_list1)/len(test_list1) norm_cov = (av_cov + av_read_cov)/2 for i in het_hom_list: supp_reads = round(float(i[-2])*int(i[2])) i.append(round(supp_reads/av_read_cov, 4)) i.append(supp_reads) het_hom_list_new.append(i) return (het_hom_list_new) hap_def_list = [] allele_cn_list = [] def dup_test_cn_3_4(sv_dup, hap_dbs, cand_allele1, cand_allele2, test_allele1, test_allele2, c_num, av_cov, in_list): g = open(hap_dbs, "r") for line in g: line = line.strip().split() hap_def_list.append(line) test_list1 = [] test_list2 = [] het_list = [] for i in in_list: if i[1] == "0/1": het_list.append(i) for i in het_list: test_list1.append(i[0]) test_list2.append(i[-2]) max_het = max(test_list2) max_het_pos = test_list2.index(max_het) var = test_list1[max_het_pos] for elem in hap_def_list: if elem[1] == cand_allele1: list_3t = elem list_3t_2 = list_3t[2].split(';') l3 = len(list_3t_2) if elem[1] == cand_allele2: list_4t = elem list_4t_2 = list_4t[2].split(';') l4 = len(list_4t_2) hdb_list = list_3t_2 + list_4t_2 index_var = hdb_list.index(var) if index_var < l3: allele_cn_list.append(test_allele1) allele_cn_list.append(int(round(max_het*int(c_num)))) elif index_var >= l3: allele_cn_list.append(test_allele2) allele_cn_list.append(int(round(max_het*int(c_num)))) if allele_cn_list[0] == test_allele1: rt_2 = int(c_num) - allele_cn_list[1] allele_cn_list.append(test_allele2) allele_cn_list.append(rt_2) elif allele_cn_list[0] == test_allele2: rt_2 = int(c_num) - allele_cn_list[1] allele_cn_list.append(test_allele1) allele_cn_list.append(rt_2) if allele_cn_list[1] == 0: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3] - 1) elif allele_cn_list[3] == 0: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1] - 1) elif allele_cn_list[1] == 1: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3]) elif allele_cn_list[3] == 1: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1]) elif allele_cn_list[1] == 2: res_dip = allele_cn_list[0] + "x2" + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3]) elif allele_cn_list[3] == 2: res_dip = allele_cn_list[2] + "x2" + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1]) elif allele_cn_list[1] == -1: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3] - 2) elif allele_cn_list[3] == -1: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1] - 2) elif allele_cn_list[3] < -1: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(3) elif allele_cn_list[1] < -1: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(3) else: res_dip = 'check' return res_dip def dup_test_cn_n(sv_dup, hap_dbs, cand_allele1, cand_allele2, test_allele1, test_allele2, c_num, av_cov, in_list): g = open(hap_dbs, "r") for line in g: line = line.strip().split() hap_def_list.append(line) test_list1 = [] test_list2 = [] het_list = [] for i in in_list: if i[1] == "0/1": het_list.append(i) for i in het_list: test_list1.append(i[0]) test_list2.append(i[-2]) max_het = max(test_list2) max_het_pos = test_list2.index(max_het) var = test_list1[max_het_pos] for elem in hap_def_list: if elem[1] == cand_allele1: list_3t = elem list_3t_2 = list_3t[2].split(';') l3 = len(list_3t_2) if elem[1] == cand_allele2: list_4t = elem list_4t_2 = list_4t[2].split(';') l4 = len(list_4t_2) hdb_list = list_3t_2 + list_4t_2 index_var = hdb_list.index(var) if index_var < l3: allele_cn_list.append(test_allele1) allele_cn_list.append(int(round(max_het*int(c_num)-0.15))) elif index_var >= l3: allele_cn_list.append(test_allele2) allele_cn_list.append(int(round(max_het*int(c_num)-0.15))) if allele_cn_list[0] == test_allele1: rt_2 = int(c_num) - allele_cn_list[1] allele_cn_list.append(test_allele2) allele_cn_list.append(rt_2) elif allele_cn_list[0] == test_allele2: rt_2 = int(c_num) - allele_cn_list[1] allele_cn_list.append(test_allele1) allele_cn_list.append(rt_2) if allele_cn_list[1] == 0: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3] - 1) elif allele_cn_list[3] == 0: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1] - 1) elif allele_cn_list[1] == 1: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3]) elif allele_cn_list[3] == 1: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1]) elif allele_cn_list[1] == 2: res_dip = allele_cn_list[0] + "x2" + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3]) elif allele_cn_list[3] == 2: res_dip = allele_cn_list[2] + "x2" + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1]) elif allele_cn_list[1] == 3: res_dip = allele_cn_list[0] + "x3" + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3]) elif allele_cn_list[3] == 3: res_dip = allele_cn_list[2] + "x3" + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1]) elif allele_cn_list[1] == 4: res_dip = allele_cn_list[0] + "x4" + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3]) elif allele_cn_list[3] == 4: res_dip = allele_cn_list[2] + "x4" + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1]) elif allele_cn_list[1] == -1: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3] - 2) elif allele_cn_list[3] == -1: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1] - 2) elif allele_cn_list[3] < 0: res_dip = allele_cn_list[2] + "/" + allele_cn_list[0] + "x" + str(allele_cn_list[1] + allele_cn_list[3] - 1) elif allele_cn_list[1] < 0: res_dip = allele_cn_list[0] + "/" + allele_cn_list[2] + "x" + str(allele_cn_list[3] + allele_cn_list[1] - 1) else: res_dip = 'check' return res_dip def hybrid_test_68(sv_dup, c_num, av_cov, cn_in1_3pr1, in_list): test_list1 = [] test_list2 = [] test_list3 = [] for i in in_list: test_list1.append(i[0]) test_list2.append(abs(float(i[-2]))) test_list3.append(i[-1]) index1 = test_list1.index('42130692~G>A') index2 = test_list1.index('42128945~C>T') val_68 = test_list3[index1] val_4 = test_list3[index2] rt = val_68/val_4 if rt <= 1.4: return 'norm_dup' elif rt > 1.4: return 'hyb_68' else: return 'norm_dup' def hyb_test_5_68_4(sv_del, in1_3pr1_float, av_cov): test_del = [] for line in open(sv_del, "r"): if "COVERAGE" in line: test_del.append(line.strip()) # if len(test_del) == 0: # return 'norm_art' # elif len(test_del) > 0: # return 'del_hyb' t1 = 2 * in1_3pr1_float/av_cov if len(test_del) == 0 and (1.6 < t1 < 2.8): return 'norm_art' elif len(test_del) > 0 and t1 < 1.6: return 'del_hyb' def hybrid_test_36(sv_dup, cn, av_cov, cn_ex9_3pr, cn_2d7_ex9, cn_2d7_in4_in8): if ((int(cn) - 1) - 0.3) < float(cn_ex9_3pr) < ((int(cn) - 1) + 0.5) or (2.5 < (2 * float(cn_2d7_ex9)/float(cn_2d7_in4_in8)) < 3.5): return 'hyb_36_10' elif (int(cn) - 2) <= float(cn_ex9_3pr) < (int(cn) - 2 + 0.7): return 'hyb_36_36' else: return 'norm_dup' def hybrid_test_36_single(sv_dup, cn, av_cov, cn_ex9_3pr): if int(round(float(cn_ex9_3pr))) == int(cn): return 'norm_star10' elif ((int(cn) - 1) - 0.35) < float(cn_ex9_3pr) < ((int(cn) - 1) + 0.5): return 'hyb_36_single' else: return 'norm_star10' def hybrid_test_36_mod(sv_dup, cn, av_cov, cn_ex9_3pr): if int(round(float(cn_ex9_3pr))) == int(cn): return 'norm_mt' elif ((int(cn) - 1) - 0.05) < float(cn_ex9_3pr) < ((int(cn) - 1) + 0.5): return 'hyb_36_10' elif (int(cn) - 2) <= float(cn_ex9_3pr) < (int(cn) - 2 + 0.95): return 'hyb_36_36' def hybrid_test_36_multi(sv_dup, cn, av_cov, cn_ex9_3pr): if int(round(float(cn_ex9_3pr))) == int(cn): return 'norm_mt' elif ((int(cn) - 1) - 0.05) < float(cn_ex9_3pr) < ((int(cn) - 1) + 0.5): return 'hyb_36_10' elif (int(cn) - 2) <= float(cn_ex9_3pr) < (int(cn) - 2 + 0.95): return 'hyb_36_36' elif (int(cn) - 3) <= float(cn_ex9_3pr) < (int(cn) - 3 + 0.95): return 'hyb_36_36_36' else: return 'check' def hybrid_test_36_multi_10(sv_dup, cn, av_cov, cn_ex9_3pr, cn_star10): if int(round(float(cn_ex9_3pr))) == int(cn): return 'norm_mt' elif float(cn_ex9_3pr) < ((int(cn) - 1) + 0.5): cn_star36 = int(cn) - int(round(float(cn_ex9_3pr))) adj_cn_star10 = int(cn_star10) - cn_star36 if cn_star36 == 1: return '*36+*10x' + str(adj_cn_star10) else: return '*36x' + str(cn_star36) + '+*10x' + str(adj_cn_star10) else: return 'check' def hybrid_13_2_v1(cov_in4_3pr, cov_5pr_in4): if 0.85 < float(cov_in4_3pr)/float(cov_5pr_in4) < 1.2: return 'norm_var' elif 0.45 < float(cov_in4_3pr)/float(cov_5pr_in4) < 0.75: return 'hyb_13_2' else: return 'norm_var' def hybrid_13_2_v2(cov_2d7_ex2_in8, cov_2d7_5pr_in1): if 0.85 < float(cov_2d7_ex2_in8)/float(cov_2d7_5pr_in1) < 1.2: return 'norm_var' elif 0.45 < float(cov_2d7_ex2_in8)/float(cov_2d7_5pr_in1) < 0.75: return 'hyb_13_2_v2' else: return 'norm_var' def tandem_90_1(in_list, alt_allele, cn): test_list1 = [] test_list2 = [] test_list3 = [] for i in in_list: test_list1.append(i[0]) test_list2.append(abs(float(i[-2]))) test_list3.append(i[-1]) if len(test_list1) > 1: index1 = test_list1.index('42129098~T>C') a = test_list3[index1] test_list3.pop(index1) b = max(test_list3) c = round(b/a) if int(cn) == 3 and c == 1: res = alt_allele + "/" + "*90+*1" elif int(cn) == 3 and c > 1: res = alt_allele + "x2" + "/" + "*90" elif int(cn) == 4 and c == 2: res = alt_allele + "x2" + "/" + "*90+*1" elif int(cn) == 4 and c >= 3: res = alt_allele + "x3" + "/" + "*90" else: val1 = test_list2[0] val2 = round(val1 * int(cn)) if int(cn) == 3 and val2 == 1: res = '*1/*90+*1' elif int(cn) == 3 and val2 == 2: res = '*90/*90+*1' elif int(cn) == 4 and val2 == 1: res = '*1x2/*90+*1' elif int(cn) == 4 and val2 == 2: res = '*90+*1/*90+*1' elif int(cn) == 4 and val2 == 3: res = '*90x2/*90+*1' elif int(cn) == 3 and val2 == 3: res = '*90/*90x2' elif int(cn) == 4 and val2 == 4: res = '*90/*90x3' return res def tandem_57_10(in_list, alt_allele, cn): test_list1 = [] test_list2 = [] test_list3 = [] for i in in_list: test_list1.append(i[0]) test_list2.append(abs(float(i[-2]))) test_list3.append(i[-1]) if len(test_list1) > 1: index1 = test_list1.index('42129906~G>A') a = test_list3[index1] test_list3.pop(index1) index2 = test_list1.index('42130692~G>A') m = test_list3[index2] test_list3.pop(index2) b = max(test_list3) c = round(b/a) p = round(m/a) if int(cn) == 3 and c == 1 and p > 1: res = alt_allele + "/" + "*57+*10" elif int(cn) == 3 and c > 1 and p == 1: res = alt_allele + "x2" + "/" + "*57" elif int(cn) == 4 and c == 2 and p > 1: res = alt_allele + "x2" + "/" + "*57+*10" elif int(cn) == 4 and c >= 3 and p == 1: res = alt_allele + "x3" + "/" + "*57" elif int(cn) == 4 and p == 1 and alt_allele == '*10': res = "*57+*10" + "/" + "*57+*10" elif int(cn) == 4 and p > 1 and alt_allele == '*10': res = "*10x2" + "/" + "*57+*10" else: res = alt_allele + "/" + "*57+*10" return res def hybrid_test_83_single(sv_dup, cn, av_cov, cn_ex9_3pr): if int(round(float(cn_ex9_3pr))) == int(cn): return 'norm_star39' elif ((int(cn) - 1) - 0.35) < float(cn_ex9_3pr) < ((int(cn) - 1) + 0.5): return 'hyb_83_single' else: return 'norm_star39' def hybrid_test_83(sv_dup, cn, av_cov, cn_ex9_3pr): if int(round(float(cn_ex9_3pr))) == int(cn): return 'norm_star39' elif ((int(cn) - 1) - 0.35) < float(cn_ex9_3pr) < ((int(cn) - 1) + 0.5): return 'hyb_83' else: return 'norm_star39'