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Waller et al. J Transl Genet Genom 2021;5:112-23 I http://dx.doi.org/10.20517/jtgg.2021.09 Page 118

N 4 3 3 4 3 2 3 4 3 3 3 4 3 4 4 3

Region 233,695,394-234,039,857 55,327,407-56,374,910 12,006,892-13,075,760 107,141,104-107,994,565 133,295,892-134,597,267 98,528,404-101,304,411 98,495,952-100,243,033 162,474,893-162,957,575 75,222,070-76,813,298 75,441,794-77,098,772 121,438,844-123,030,788 36,297,517-36,537,635 9,285,824-9,866,696 58,208,260-59,059,262 68,834,971-69,260,566 15,648,456-16,217,107

Duo pedigree MB 0.34 1.05 1.07 0.85 1.30 2.78 1.75 0.48 1.59 1.66 1.59 0.24 0.58 0.85 0.43 0.57

P-value 3.80 × 10 -5 1.89 × 10 -4 8.20 × 10 -5 6.00 × 10 -6 5.60 × 10 -5 1.70 × 10 -3 2.50 × 10 -6 5.33 × 10 -6 6.70 × 10 -5 2.90 × 10 -5 2.60 × 10 -5 3.87 × 10 -4 1.23 × 10 -5 1.14 × 10 -5 5.10 × 10 -5 2.10 × 10 -5

Ped ID 549917 48833 48833 48833 549917 549917 571744 48833 48833 549917 571744 48833 571744 48833 48833 571744

N
Table 2. Duo-SGS genome-wide significant and suggestive regions
2 4 2 3 3 2 3 3 2 2 3 3 2 2 3 3 3 2 3 3 3 3 3 2

Region 233,288,913-234,508,704 56,267,182-57,098,139 11,092,264-13,117,999 106,800,148-107,158,158 107,140,556-107,784,684 107,118,121-108,803,319 133,011,503-133,591,127 98,495,952-100,243,033 99,013,740-100,606,568 97,093,259-99,478,304 98,177,018-98,980,113 99,893,527-100,293,531 162,250,522-163,291,300 162,724,247-163,544,705 162,615,606-162,928,898 162,450,471-162,752,050 75,441,794-77,098,772 75,442,855-77,663,486 120,388,8

Fixed pedigree MB 1.22 0.83 2.03 0.36 0.64 1.69 0.58 1.75 1.59 2.39 0.80 0.40 1.04 0.82 0.31 0.30 1.66 2.22 1.16 1.12 0.19 1.22 0.68 1.32

P-value 1.62 × 10 -3 6.70 × 10 -5 1.80 × 10 -4 4.30 × 10 -4 4.78 × 10 -3 2.78 × 10 -3 1.83 × 10 -4 2.50 × 10 -6 1.53 × 10 -3 8.55 × 10 -3 1.32 × 10 -2 4.81 × 10 -3 1.53 × 10 -3 1.40 × 10 -2 6.38 × 10 -3 9.17 × 10 -3 2.90 × 10 -5 3.00 × 10 -3 9.34 × 10 -4 3.60 × 10 -5 2.90 × 10 -3 2.80 × 10 -5 2.80 × 10 -4 2.64 × 10 -3

Ped ID 546699 576834 571744 549917 651626 2122 260 571744 34955 4823 651626 576834 2122 546699 20245 4823 549917 546699 20245 2122 20245 549917 34955 546699

Region 233,695,394-234,039,857 56,267,182-56,374,910 12,006,892-13,075,760 107,141,104-107,158,158 107,141,104-107,784,684 107,141,104-107,994,565 133,295,892-133,591,127 98,528,404-100,243,033 99,013,740-100,243,033 98,495,952-99,478,304 98,495,952-98,980,113 99,893,527-100,243,033 162,474,893-162,957,575 162,724,247-162,957,575 162,615,606-162,928,898 162,474,893-162,752,050 75,441,794-76,813,298 75,442,855-77,098,772 121,438,8

Duo-SGS MB 0.34 0.11 1.07 0.02 0.64 0.85 0.30 1.23 0.98 0.48 0.35 0.48 0.23 0.31 0.28 1.37 1.66 0.11 0.13 0.17 0.85 0.20 0.44

μ(t) 0.464 0.911 0.964 0.354 0.630 0.840 0.396 1.71 0.250 0.121 0.341 0.752 0.856 0.379 0.595 0.752 0.971 0.255 0.720 0.494 0.689 0.799 0.029 0.569 0.406

P-value 1.08 × 10 -6 2.43 × 10 -7 2.81 × 10 -7 5.36 × 10 -8 5.27 × 10 -7 3.15 × 10 -7 1.99 × 10 -7 8.60 × 10 -8 7.81 × 10 -8 3.99 × 10 -7 6.03 × 10 -7 2.31 × 10 -7 1.61 × 10 -7 1.30 × 10 -6 6.20 × 10 -7 8.73 × 10 -7 4.09 × 10 -8 1.50 × 10 -6 4.50 × 10 -7 2.66 × 10 -7 6.48 × 10 -7 7.30 × 10 -9 2.72 × 10 -7 9.82 × 10 -7

Locus 1q42.2 2p16.1 3p25.2 5q21.3 5q31.1 6q16.1 6q26 7q11.23 12q24.31 13q13.3 18p11.22 18q21.33 18q22.3 19p13.12