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Table 4 The average number of alleles per locus obtained from a combined variant callset based on merging of variants by Jasmine, and vamos motif annotations. For the Jasmine calls, the number of alleles was determined using two different definitions. The first definition was based on the presence of known variants in the callset, referred to as “allele by variant” in the table. The second definition was based on the aggregated length of inherited variants, referred to as “allele by total variant length”. In contrast, for the vamos method, the table evaluated two definitions of an allele. The first definition was based on the number of motifs in the annotated string, denoted as “allele by length” in the table. The second definition was based on the annotated string of motifs from vamos, denoted as “allele by motif string”. The analysis was conducted using the subset of VNTR loci for which Jasmine records a variants (N = 65,584 for variants \(\ge\) 20bp and N = 46,597 for variants \(\ge\) 30bp)

From: vamos: variable-number tandem repeats annotation using efficient motif sets

 

Variant >= 20bp

Variant >= 30bp

Total number of variants

410,418

288,172

Total number of variants falling into VNTRs

153,880

117,431

Total number of VNTRs intersected with variants

65,584

46,597

 

# alleles by variant

# alleles by total variant length

# alleles by variant

# alleles by total variant length

Interval-based method (Jasmine)

5.5

4.0

5.8

4.1

 vamos

# alleles by motif string

# alleles by length

# alleles by motif string

# alleles by length

q = 0

16.7

7.6

19.9

8.5

q = 0.1

14.1

7.5

16.7

8.3

q = 0.2

13.0

7.4

15.3

8.3

q = 0.3

11.8

7.4

13.8

8.2