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Table 1 Sensitivity of STRling run on PCR-free Illumina WGS of 94 subjects with alleles of pathogenic size at an STR disease locus. Outlier testing was performed against 260 individuals from the 1000 genomes project

From: STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Disease

Inheritance

Repeat unit

CG%

Locus found individual calling

STRling est. > pathogenic threshold

Significant outlier

N subjects

CANVAS

AR

AAGGG

60

4 (80%)

0

5 (100%)

5

DBQD2

AR

CCG

100

1 (100%)

1 (100%)

1 (100%)

1

DM1

AD

CAG

66.7

18 (100%)

18 (100%)

18 (100%)

18

DM2

AD

CCTG

75

1 (100%)

0

1 (100%)

1

DRPLA

AD

CAG

66.7

2 (100%)

2 (100%)

2 (100%)

2

FRDA

AR

AAG

33.3

26 (100%)

26 (100%)

26 (100%)

26

FTDALS1

AD

GGGGCC

100

1 (100%)

0

1 (100%)

1

FXS

XD

CGG

100

11 (68.8%)

0

3 (18.8%)

16

HD

AD

CAG

66.7

11 (84.6%)

13 (100%)

13 (100%)

13

SBMA

XR

CAG

66.7

1 (33.3%)

3 (100%)

3 (100%)

3

SCA1

AD

CTG

66.7

3 (75%)

4 (100%)

4 (100%)

4

SCA3

AD

CTG

66.7

2 (100%)

2 (100%)

0

2

SCA6

AD

CAG

66.7

0

0

0

1

SCA8

AD

CTG

66.7

1 (100%)

1 (100%)

1 (100%)

1

Total

82 (87.2%)

70 (74.5%)

78 (83.0%)

94

  1. Novel STR disease loci (not in reference genome) are indicated in bold/underline. Repeat units are reported on the forward strand
  2. AD Autosomal dominant, AR Autosomal recessive, XD X-linked dominant, XR X-linked recessive