Files
reproduce_setup/pgx-main/scripts/nat1/hg38/bin/snv_def_modules.py
2025-08-18 13:09:30 +02:00

464 lines
18 KiB
Python

#!/usr/bin/env python3
import os
import sys
def get_core_variants(infile, cn):
core_vars = []
for line in open(infile, "r"):
line = line.strip()
core_vars.append(line)
core_vars = ";".join(sorted(core_vars))
if int(cn) == 1:
core_vars = core_vars.replace("~0/1", "~1/1")
if os.stat(infile).st_size == 0:
core_vars = "REF alleles for rs1057126 and rs15561 in GRCh38"
return core_vars
def get_all_vars_gt(infile_full_gt):
all_vars_gt = []
for line in open(infile_full_gt, "r"):
line = line.strip()
all_vars_gt.append(line)
all_vars_gt = ";".join(sorted(all_vars_gt))
return all_vars_gt
def cand_snv_allele_calling(database, infile, infile_full, infile_full_gt, infile_spec, cn):
f = open(infile_spec, "r")
all_variants = []
for line in open(infile_full, "r"):
line.strip()
all_variants.append(line)
# all_variants = line.strip().split(";")
# print(all_variants)
if os.stat(infile).st_size == 0:
cand_res = ['10.v1_10.v1']
allele_res = "*10/*10"
return ["".join(cand_res), allele_res];
#print("\nSupporting variants")
#print("\n" + "".join(all_variants))
sys.exit()
# core_variants = []
# for line in open(infile, "r"):
# line = line.strip()
# core_variants.append(line)
# core_variants = ";".join(sorted(core_variants))
core_variants = get_core_variants(infile, cn)
# if int(cn) == 1:
# core_variants = core_variants.replace("~0/1", "~1/1")
# else:
# pass
all_var_gt = []
for line in open(infile_full_gt, "r"):
line = line.strip()
all_var_gt.append(line)
dbs = []
for line in open(database, "r"):
line = line.strip().split("\t")
dbs.append(line)
soln_list1 = []
soln_list2 = []
for record in dbs:
record_core_var = record[1].split(";")
record_core_var = ";".join(sorted(record_core_var))
if record_core_var == core_variants:
diplo = record[0]
full_dip = record[2]
soln_list1.append(record[0])
soln_list2.append(record[2])
else:
pass
#return soln_list1
#print("\nResult:")
diff_alleles_check = False
def chkList(lst):
if len(lst) < 0 :
diff_alleles_check = True
diff_alleles_check = all(ele == lst[0] for ele in lst)
if(diff_alleles_check):
return("Equal")
else:
return("Not equal")
if len(soln_list1) == 1:
diplo = "".join(soln_list1)
res1 = [i for i in range(len(diplo)) if diplo.startswith("_", i)]
res2 = [i for i in range(len(diplo)) if diplo.startswith(".", i)]
hap1 = "*" + str (diplo[:res2[0]])
hap2 = "*" + str (diplo[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, diplo, allele_res];
#print ("\nSupporting variants:")
#print ("\n" + core_variants + "\n")
elif len(soln_list1) == 2:
diplo1 = soln_list1[0]
diplo2 = soln_list1[1]
diplo1_supp_var = soln_list2[0].split(";")
diplo2_supp_var = soln_list2[1].split(";")
uniq_diplo1 = []
uniq_diplo2 = []
for i in all_variants:
if i not in diplo1_supp_var:
uniq_diplo1.append(i)
if i not in diplo2_supp_var:
uniq_diplo2.append(i)
#print("\nUnique variants in soln 1: {}".format(len(uniq_diplo1)))
#print("\nUnique variants in soln 2: {}".format(len(uniq_diplo2)))
if len(uniq_diplo1) < len(uniq_diplo2):
res1 = [i for i in range(len(diplo1)) if diplo1.startswith("_", i)]
res2 = [i for i in range(len(diplo1)) if diplo1.startswith(".", i)]
hap1 = "*" + str (diplo1[:res2[0]])
hap2 = "*" + str (diplo1[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, diplo1, allele_res];
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
elif len(uniq_diplo1) > len(uniq_diplo2):
res1 = [i for i in range(len(diplo2)) if diplo2.startswith("_", i)]
res2 = [i for i in range(len(diplo2)) if diplo2.startswith(".", i)]
hap1 = "*" + str (diplo2[:res2[0]])
hap2 = "*" + str (diplo2[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, diplo2, allele_res];
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
# elif len(uniq_diplo1) == len(uniq_diplo2) and (diplo1 == "4.v11_74.v1" and diplo2 == "4.v12_1.v1"):
# res1 = [i for i in range(len(diplo2)) if diplo2.startswith("_", i)]
# res2 = [i for i in range(len(diplo2)) if diplo2.startswith(".", i)]
# hap1 = "*" + str (diplo2[:res2[0]])
# hap2 = "*" + str (diplo2[res1[0]+1:res2[1]])
# allele_res = hap1 + "/" + hap2
# return [soln_list1, diplo2, allele_res];
# elif len(uniq_diplo1) == len(uniq_diplo2) and diplo2 == "41.v1_65.v1":
# res1 = [i for i in range(len(diplo2)) if diplo2.startswith("_", i)]
# res2 = [i for i in range(len(diplo2)) if diplo2.startswith(".", i)]
# hap1 = "*" + str (diplo2[:res2[0]])
# hap2 = "*" + str (diplo2[res1[0]+1:res2[1]])
# allele_res = hap1 + "/" + hap2
# return [soln_list1, diplo2, allele_res];
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
# elif len(uniq_diplo1) == len(uniq_diplo2) and (diplo1 == "4.v1_6.v1" and diplo2 == "4.v4_6.v2") :
# res1 = [i for i in range(len(diplo1)) if diplo1.startswith("_", i)]
# res2 = [i for i in range(len(diplo1)) if diplo1.startswith(".", i)]
# hap1 = "*" + str (diplo1[:res2[0]])
# hap2 = "*" + str (diplo1[res1[0]+1:res2[1]])
# allele_res = hap1 + "/" + hap2
# return [soln_list1, diplo1, allele_res];
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
else:
tiebreak1 = []
tiebreak2 = []
tiebreak3 = []
score = []
for line in f:
line = line.strip().split()
#print(line)
if line[2] == core_variants:
tiebreak1.append(line[1])
tiebreak2.append(line[3])
tiebreak3.append(line[0])
for full_dip in tiebreak2:
diplo_supp_gt = full_dip.split(";")
uniq_gt = []
for i in all_var_gt:
if i not in diplo_supp_gt:
uniq_gt.append(i)
score_dip = len(uniq_gt)
score.append(score_dip)
min_score = min(score)
# print(score)
# if chkList(score) == "Equal" and soln_list1[0] == "17.v1_4.v1":
# elem = "17.v1_4.v1"
# res1 = [i for i in range(len(elem)) if elem.startswith("_", i)]
# res2 = [i for i in range(len(elem)) if elem.startswith(".", i)]
# hap1 = "*" + str (elem[:res2[0]])
# hap2 = "*" + str (elem[res1[0]+1:res2[1]])
# result_dip = hap1 + "/" + hap2
# return [soln_list1, elem, result_dip];
if chkList(score) == "Equal":
amb_soln_set = []
for elem in soln_list1:
res1 = [i for i in range(len(elem)) if elem.startswith("_", i)]
res2 = [i for i in range(len(elem)) if elem.startswith(".", i)]
hap1 = "*" + str (elem[:res2[0]])
hap2 = "*" + str (elem[res1[0]+1:res2[1]])
result_dip = hap1 + "/" + hap2
amb_soln_set.append(result_dip)
#elem_pos = tiebreak1.index(elem)
#print ("Solution " + str(elem_pos) + ": " + result_dip)
allele_res = " or ".join(amb_soln_set)
return [soln_list1, allele_res];
# elif score.count(min_score) > 1 and soln_list1[0] == "11.v1_2.v2":
# elem = "11.v1_2.v2"
# res1 = [i for i in range(len(elem)) if elem.startswith("_", i)]
# res2 = [i for i in range(len(elem)) if elem.startswith(".", i)]
# hap1 = "*" + str (elem[:res2[0]])
# hap2 = "*" + str (elem[res1[0]+1:res2[1]])
# result_dip = hap1 + "/" + hap2
# return [soln_list1, elem, result_dip];
elif score.count(min_score) > 1:
index_scores = []
amb_soln_set = []
for i in score:
if i == min_score:
index_scores.append(score.index(i))
alt_solns = []
for j in index_scores:
elem = tiebreak1[j]
res1 = [i for i in range(len(elem)) if elem.startswith("_", i)]
res2 = [i for i in range(len(elem)) if elem.startswith(".", i)]
hap1 = "*" + str (elem[:res2[0]])
hap2 = "*" + str (elem[res1[0]+1:res2[1]])
result_dip = hap1 + "/" + hap2
alt_solns.append(result_dip)
if chkList(alt_solns) == "Equal":
return[soln_list1, alt_solns[0]];
else:
alt_solns = sorted(alt_solns)
amb_soln_set.append(alt_solns[0])
amb_soln_set.append(alt_solns[-1])
allele_res = " or ".join(amb_soln_set)
return [soln_list1, allele_res];
# amb_soln_set = []
# temp_set = []
# temp_set.append(tiebreak1[0])
# temp_set.append(tiebreak1[-1])
# for elem in temp_set:
# res1 = [i for i in range(len(elem)) if elem.startswith("_", i)]
# res2 = [i for i in range(len(elem)) if elem.startswith(".", i)]
# hap1 = "*" + str (elem[:res2[0]])
# hap2 = "*" + str (elem[res1[0]+1:res2[1]])
# result_dip = hap1 + "/" + hap2
# amb_soln_set.append(result_dip)
#elem_pos = tiebreak1.index(elem)
#print ("Solution " + str(elem_pos) + ": " + result_dip)
# allele_res = " or ".join(amb_soln_set)
# return [soln_list1, allele_res];
#print ("\nSupporting core variants:")
#print ("\n" + core_variants + "\n")
else:
minpos = score.index(min_score)
best_diplo = tiebreak1[minpos]
best_cand_haps = tiebreak3[minpos]
res1 = [i for i in range(len(best_diplo)) if best_diplo.startswith("_", i)]
res2 = [i for i in range(len(best_diplo)) if best_diplo.startswith(".", i)]
hap1 = "*" + str (best_diplo[:res2[0]])
hap2 = "*" + str (best_diplo[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, best_cand_haps, allele_res];
#print ("Supporting core variants:")
#print ("\n" + core_variants + "\n")
elif len(soln_list1) == 3:
diplo1 = soln_list1[0]
diplo2 = soln_list1[1]
diplo3 = soln_list1[2]
diplo1_supp_var = soln_list2[0].split(";")
diplo2_supp_var = soln_list2[1].split(";")
diplo3_supp_var = soln_list2[2].split(";")
uniq_diplo1 = []
uniq_diplo2 = []
uniq_diplo3 = []
for i in all_variants:
if i not in diplo1_supp_var:
uniq_diplo1.append(i)
if i not in diplo2_supp_var:
uniq_diplo2.append(i)
if i not in diplo3_supp_var:
uniq_diplo3.append(i)
if len(uniq_diplo1) < len(uniq_diplo2) and len(uniq_diplo1) < len(uniq_diplo3):
res1 = [i for i in range(len(diplo1)) if diplo1.startswith("_", i)]
res2 = [i for i in range(len(diplo1)) if diplo1.startswith(".", i)]
hap1 = "*" + str (diplo1[:res2[0]])
hap2 = "*" + str (diplo1[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, diplo1, allele_res];
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
elif len(uniq_diplo1) > len(uniq_diplo2) and len(uniq_diplo2) < len(uniq_diplo3):
res1 = [i for i in range(len(diplo2)) if diplo2.startswith("_", i)]
res2 = [i for i in range(len(diplo2)) if diplo2.startswith(".", i)]
hap1 = "*" + str (diplo2[:res2[0]])
hap2 = "*" + str (diplo2[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, diplo2, allele_res]
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
elif len(uniq_diplo1) > len(uniq_diplo2) and len(uniq_diplo2) > len(uniq_diplo3):
res1 = [i for i in range(len(diplo3)) if diplo3.startswith("_", i)]
res2 = [i for i in range(len(diplo3)) if diplo3.startswith(".", i)]
hap1 = "*" + str (diplo3[:res2[0]])
hap2 = "*" + str (diplo3[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, diplo3, allele_res]
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
# elif len(uniq_diplo1) == len(uniq_diplo2) == len(uniq_diplo3) and diplo3 == "39.v1_4.v4":
# res1 = [i for i in range(len(diplo3)) if diplo3.startswith("_", i)]
# res2 = [i for i in range(len(diplo3)) if diplo3.startswith(".", i)]
# hap1 = "*" + str (diplo3[:res2[0]])
# hap2 = "*" + str (diplo3[res1[0]+1:res2[1]])
# allele_res = hap1 + "/" + hap2
# return [soln_list1, diplo3, allele_res]
#print ("Supporting variants:")
#print ("\n" + core_variants + "\n")
elif len(uniq_diplo1) == len(uniq_diplo2) == len(uniq_diplo3) or (len(uniq_diplo1) != len(uniq_diplo2) == len(uniq_diplo3)) or (len(uniq_diplo1) == len(uniq_diplo2) != len(uniq_diplo3)):
tiebreak1 = []
tiebreak2 = []
tiebreak3 = []
score = []
for line in f:
line = line.strip().split()
#print(line)
if line[2] == core_variants:
tiebreak1.append(line[1])
tiebreak2.append(line[3])
tiebreak3.append(line[0])
for full_dip in tiebreak2:
diplo_supp_gt = full_dip.split(";")
uniq_gt = []
for i in all_var_gt:
if i not in diplo_supp_gt:
uniq_gt.append(i)
score_dip = len(uniq_gt)
score.append(score_dip)
min_score = min(score)
# print(score)
if chkList(score) == "Equal":
amb_soln_set = []
for elem in tiebreak1:
res1 = [i for i in range(len(elem)) if elem.startswith("_", i)]
res2 = [i for i in range(len(elem)) if elem.startswith(".", i)]
hap1 = "*" + str (elem[:res2[0]])
hap2 = "*" + str (elem[res1[0]+1:res2[1]])
result_dip = hap1 + "/" + hap2
amb_soln_set.append(result_dip)
#elem_pos = tiebreak1.index(elem)
#print ("Solution " + str(elem_pos) + ": " + result_dip)
allele_res = " or ".join(amb_soln_set)
return [soln_list1, tiebreak1, allele_res];
#print ("\nSupporting core variants:")
#print ("\n" + core_variants + "\n")
elif score.count(min_score) > 1:
index_scores = []
amb_soln_set = []
for i in score:
if i == min_score:
index_scores.append(score.index(i))
alt_solns = []
for j in index_scores:
elem = tiebreak1[j]
res1 = [i for i in range(len(elem)) if elem.startswith("_", i)]
res2 = [i for i in range(len(elem)) if elem.startswith(".", i)]
hap1 = "*" + str (elem[:res2[0]])
hap2 = "*" + str (elem[res1[0]+1:res2[1]])
result_dip = hap1 + "/" + hap2
alt_solns.append(result_dip)
if chkList(alt_solns) == "Equal":
return[soln_list1, alt_solns[0]];
else:
alt_solns = sorted(alt_solns)
amb_soln_set.append(alt_solns[0])
amb_soln_set.append(alt_solns[-1])
allele_res = " or ".join(amb_soln_set)
return [soln_list1, allele_res];
else:
minpos = score.index(min_score)
best_diplo = tiebreak1[minpos]
best_cand_haps = tiebreak3[minpos]
res1 = [i for i in range(len(best_diplo)) if best_diplo.startswith("_", i)]
res2 = [i for i in range(len(best_diplo)) if best_diplo.startswith(".", i)]
hap1 = "*" + str (best_diplo[:res2[0]])
hap2 = "*" + str (best_diplo[res1[0]+1:res2[1]])
allele_res = hap1 + "/" + hap2
return [soln_list1, best_cand_haps, allele_res];
#print ("Supporting core variants:")
#print ("\n" + core_variants + "\n")
#print("\nFull diplotype variants:")
#print("\n" + ";".join(all_var_gt))