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Table 1 Signatures and features used by Duet

From: Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing

Supporting read signature

 

HP

Haplotype

PC

Confidence score of the haplotype prediction

VC

Count of SV marks

Feature for SV phasing

 

pSV = ΣVC>0VC ≥ 0

Proportion of reads with SV marks

pHP = ΣVC,HP>0VC>0

Proportion of phasable reads with SV marks

ΣPC = ΣVC*PC per HP

Total PC for read set from each haplotype

μPC = μVC*PC per HP

Average PC for read set from each haplotype

pΣPC = ΣPC1PC2

Ratio of ΣPC for both haplotype