Table 1 Prescreening of candidate variants (step 1) and ranking of known pathogenic variants (step 2)

From: HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

   

Step 1

Step 2

Patient

Gene

Disease

MinHDR

Conclusion

m

Rank

P-value

105

SUCLA2

MC

0.56

Suitable

60

2

0.038

250

QRSL1

LIMD

0.62

Suitable

74

1

0.038

268

BOLA3

LIMD

0.75

Suitable

88

4

0.019

276

MRPS23

HD

0.62

Suitable

59

2

0.038

286

BOLA3

LD

0.64

Suitable

69

2

0.019

314

BOLA3

CM

0.60

Suitable

69

2

0.038

330

NDUFAF6

MC

0.33

Inconclusive

—

—

—

559

TUFM

NLIMD

0.36

Inconclusive

—

—

—

  1. Abbreviations: CM, cardiomyopathy; HD, hepatic disease; LD, Leigh’s disease; LIMD, lethal infantile mitochondrial disorder; m, number of candidate variants; MC, mitochondrial cytopathy; MinHDR, smallest median HDR in patient-control pairs; NLIMD, non-lethal infantile mitochondrial disorder; rank, order of test statistic among m candidate variants (largest tmax ranked 1); P, empirical significance level of test statistic.
Back to article page