Table 1 Results of our family-control analysis for prioritizing m final candidate variants in an affected individual from five families.

From: Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing

Family

Gene

Disease

rank

m

%

p

F1

TTC7A

Multiple intestinal atresia

1

10

10.0

0.0645

F4

TTC7A

Multiple intestinal atresia

1

14

7.1

0.0645

F6

TTC7A

Multiple intestinal atresia

1

18

5.6

0.0645

OI

BMP1

Osteogenesis imperfecta

1

14

7.1

0.0303

L1a

POLR3B

Leukodystrophy

1

50

2.0

0.0645

L1b

POLR3B

Leukodystrophy

4

44

9.1

0.0645

  1. Rank = order of test statistic (largest tmax ranked 1) for pathogenic variant among the m candidate variants; % = top percentile rank, 100 × rank/m; p = empirical significance level. L1a and L1b refer to two affected individuals in family L1.
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