SMaSH doesn't evaluate compound heterozygous variants correctly (phased or unphased).
true.vcf
CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878
chr13 20332447 . C T 20 PASS . GT 0/1
chr13 20332452 . CA C 20 PASS . GT 0/1
pred.vcf
CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878
chr13 20332447 . CGTCTCA TGTCTCA,CGTCTC 20 PASS . GT 1/2
Evaluates to two false negatives and one false positive.
SMaSH doesn't evaluate compound heterozygous variants correctly (phased or unphased).
true.vcf
CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878
chr13 20332447 . C T 20 PASS . GT 0/1
chr13 20332452 . CA C 20 PASS . GT 0/1
pred.vcf
CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878
chr13 20332447 . CGTCTCA TGTCTCA,CGTCTC 20 PASS . GT 1/2
Evaluates to two false negatives and one false positive.