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Table 8 Parameters in LifeScope’s secondary and tertiary analysis software modules

From: Challenges in exome analysis by LifeScope and its alternative computational pipelines

 

Default value

Alignment parameters

 Minimum number of non-matches allowed during indel finding

9

 Maximum deletion size (in a gapped alignment in the first pass)

19

 Maximum insertion size (in a gapped alignment in the first pass)

4

 The minimum edge length required for insertions and deletions on the first pass

12

 Number of mismatches allowed for gap alignments

3

 Minimum mapping quality value (MAPQ) allowed for aligned read

8

 Minimum edge length required for insertions and deletions

12

 The seed window side allowed to the left of the anchor alignment

40

 The seed window side allowed to the right of the anchor alignment

80

 Maximum number of alignments for a read on the first pass which gives the maximum number of hits that are reported in the mapping output

50

SNPs analysis module using diBayes algorithm variant calling parameters

 Minimum allele ratio (Het)

0.15

 Minimum coverage (Het)

2

 Minimum non-reference base QV (Het)

28

 Minimum average non-reference base QV (Hom)

28

 Minimum base quality value for a position

28

 Minimum base quality value of the non-reference allele of a position

28

 Mapping quality value of the read

\(>\)8

 SNP call stringency. Alleles on both strands

Not required

 Threshold of mismatch/alignment-lengh ratio

1

 Base candidate allele quality value

\(>\)7

 Minimum number of unique start positions required to call heterozygote, homozygote

2

 Proportion of the total reads containing either of the two candidate alleles

0.65