dev output vcf

README.md

@@ -19,7 +19,7 @@ TT-Mars: S**t**ructural Varian**t**s Assess**m**ent B**a**sed on Haplotype-**r**
 
 `python combine.py output_dir num_X_chr`
 
-## Positional parameters
+## Positional arguments
 
 1. `output_dir`: Output directory.
 2. `if_hg38`: if reference is hg38 (True/False). 
@@ -34,6 +34,13 @@ TT-Mars: S**t**ructural Varian**t**s Assess**m**ent B**a**sed on Haplotype-**r**
 11. `num_X_chr`: if male sample: 1; if female sample: 2.
 12. `wlen_tp`: if TT-Mars validates wrong-length calls as TP (True/False).
 
+## Optional arguments
+
+1. combine.py:
+`-v/--vcf_out`: output results as vcf files, must be used together with `-f/--vcf_file`.
+`-f VCF_FILE/--vcf_file VCF_FILE`: input vcf file, use as template.
+
+
 ## Example Output
 
 ttmars_combined_res.txt:  

combine.py

@@ -1,14 +1,40 @@
 import csv
 import sys
 
-output_dir = sys.argv[1] + "/"
-no_X_chr = sys.argv[2]
-
-if int(no_X_chr) == 1:
+import argparse
+
+parser = argparse.ArgumentParser()
+parser.add_argument("output_dir",
+                    help="output directory")
+parser.add_argument("no_X_chr",
+                    choices=[1, 2],
+                    help="male sample 1, female sample 2",
+                    type=int)
+parser.add_argument("-v",
+                    "--vcf_out",
+                    help="output results as vcf files, must be used together with -f/--vcf_file",
+                    action="store_true")
+parser.add_argument("-f",
+                    "--vcf_file",
+                    help="input vcf file, use as template")
+args = parser.parse_args()
+
+if bool(args.vcf_out) ^ bool(args.vcf_file):
+    parser.error('-v/--vcf_out and -f/--vcf_file must be given together')
+
+output_dir = args.output_dir + "/"
+
+if int(args.no_X_chr) == 1:
     if_male = True
 else:
     if_male = False
 
+if args.vcf_out:
+    if_vcf = True
+    in_vcf_file = args.vcf_file
+else:
+    if_vcf = False
+
 other_sv_res_file = output_dir+"ttmars_res.txt"
 regdup_res_file = output_dir+"ttmars_regdup_res.txt"
 
@@ -73,6 +99,36 @@
     g.write("\n")
 g.close()
 
+#if output vcf
+if if_vcf:
+    from pysam import VariantFile
+    vcf_in = VariantFile(in_vcf_file)
+    vcfh = vcf_in.header
+    #vcfh.add_meta('INFO', items=[('ID',"TTMars"), ('Number',1), ('Type','String'),('Description','TT-Mars NA12878 results: TP, FA, NA or .')])
+    vcf_out_tp = VariantFile(output_dir+"ttmars_tp.vcf", 'w', header=vcfh)
+    vcf_out_fp = VariantFile(output_dir+"ttmars_fp.vcf", 'w', header=vcfh)
+    vcf_out_na = VariantFile(output_dir+"ttmars_na.vcf", 'w', header=vcfh)
+
+    for rec in vcf_in.fetch():
+        ref_name = rec.chrom
+        sv_type = rec.info['SVTYPE']
+        sv_pos = rec.pos
+        sv_end = rec.stop
+
+        try:
+            validation_res = sv_dict[(ref_name, int(sv_pos), int(sv_end), sv_type)][2]
+            if validation_res == 'True':
+                vcf_out_tp.write(rec)
+            elif validation_res == 'False':
+                vcf_out_fp.write(rec)
+        except:
+            vcf_out_na.write(rec)
+
+    vcf_out_tp.close()
+    vcf_out_fp.close()
+    vcf_out_na.close()
+    vcf_in.close()    
+
 #remove files
 import os
 for name in ['assem1_non_cov_regions.bed', 'assem2_non_cov_regions.bed',

run_ttmars.sh

@@ -41,4 +41,5 @@ python reg_dup.py "$output_dir" "$if_hg38" "$centro_file" "$files_dir"/assem1_no
 
 python chrx.py "$output_dir" "$if_hg38" "$centro_file" "$files_dir"/assem1_non_cov_regions.bed "$files_dir"/assem2_non_cov_regions.bed "$vcf_file" "$reference" "$asm_h1" "$asm_h2" "$files_dir"/lo_pos_assem1_result_compressed.bed "$files_dir"/lo_pos_assem2_result_compressed.bed "$tr_file" "$pass_only" "$seq_resolved" "$wlen_tp"
 
+#optional arguments: -v/--vcf_out: output results as vcf files, -f VCF_FILE/--vcf_file VCF_FILE: input vcf file, use as template
 python combine.py "$output_dir" "$num_X_chr"