Supplementary Table 1. Literature information of DNMs in neuropsychiatric disorders by WES/WGS
Reference
PubMed
Diseases
Method
Samples information
Brian J O’Roak et al. Nat.
Genet. 20111
21572417
ASD
WES
20 trios
238 families (25 trios,
200 quartets, 13 families
did not pass quality
control )
189 new families (158 trios,
31 quartets); 20 family have
reported (1 trios, 19
quartetes)
Proband
Control
trios
SNVs
InDels
DNMs
trios
SNVs
InDels
DNMs
20
20
1
21
0
0
0
0
225
165
3
168
200
125
0
125
189
221
17
242
50
47
0
47
Stephan J. Sanders et al.
Nature 20122
22495306
ASD
WES
Brian J O’Roak et al. Nature
20123
22495309
ASD
WES
22495311
ASD
WES
175 trios
175
163
13
176
0
0
0
0
22542183
ASD
WES
343 quartets
343
380
53
433
343
364
32
396
23260136
ASD
WGS
10 mono-zygotic (MZ)
twins
10
581
0
581
0
0
0
0
23849776
ASD
WGS
32 trios
32
40
2
42
0
0
0
0
Jinchen Li et al.
-
ASD
WES
10 trios
10
12
0
12
0
0
0
0
Jinyu Wu et al.
-
ASD
WGS
32 trios
32
1917
174
2091
0
0
0
0
Benjamin M. Neale et al.
Nature 20124
Ivan Iossifov et al. Neuron
20125
Jacob J. Michaelson et al.
Cell 20126
Yong hui Jiang et al. AJHG
20137
Tavassoli T et al. BMC Med
Genet. 20148
24650168
ASD
WES
1 trios
1
4
0
4
0
0
0
0
Lee H et al. Hum Mol
Genet. 20149
24501278
ASD
WES
1quartete
1
2
0
2
0
0
0
0
21822266
SCZ
WES
53 trios
53
36
4
40
0
0
0
0
21743468
SCZ
WES
14 trios
14
15
0
15
0
0
0
0
178
127
13
140
34
17
1
18
Bin Xu et al. Nat. Genet.
201110
Simon L Girard et al. Nat.
Genet. 201111
23042115
SCZ
WES
265 trios (231 trios of
schizophrenia and 34 trios
as control, 53 trios have
been published)
23911319
SCZ
WES
84 quartets and 21 trios
105
96
4
100
84
66
1
67
24463507
SCZ
WES
617 trios
617
598
42
640
0
0
0
0
SE McCarthy et al.
Molecular Psychiatry 201415
24776741
SCZ
WES
57 trios
57
59
6
65
0
0
0
0
Michel Guipponi et al. PLoS
ONE 201416
25420024
SCZ
WES
53 trios
53
47
2
49
0
0
0
0
Epi4K Consortium &
Epilepsy Phenome/Genome
Project. Nature 201317
23934111
EE
WES
264 trios
264
309
20
329
0
0
0
0
Bin Xu et al. Nat. Genet.
201212
Suleyman Gulsuner et al.
Cell 201313
Menachem Fromer et al.
Nature 201414
Veeramah KR et al. Am J
Hum Genet. 201218
22365152
EE
WGS
1 quartet
1
1
0
1
1
0
0
0
23086397
EE
WES
3 trios
3
10
0
10
0
0
0
0
23647072
EE
WES
10 trios
10
10
5
15
0
0
0
0
24874546
EE
WES
1 individual
1
1
0
1
0
0
0
0
Pierson TM et al. Ann Clin
Transl Neurol. 201422
24839611
EE
WES
1 individual
1
1
0
1
0
0
0
0
Hackenberg A et al.
Neuropediatrics. 201423
24710820
EE
WES
1 individual
1
1
0
1
0
0
0
0
24352161
EE
WES
1 trio
1
1
0
1
0
0
0
0
24115232
EE
WES
5 trios
5
4
2
6
0
0
0
0
Nakamura K et al. Am J
Hum Genet. 201326
23993195
EE
WES
4 trios
4
3
1
4
0
0
0
0
Schuurs-Hoeijmakers JH et
al. Am J Hum Genet. 201227
23159249
ID
WES
2 trios
2
2
0
2
0
0
0
0
Giulia Barcia et al. Nat.
Genet. 201219
Veeramah KR et al.
Epilepsia. 201320
Estacion M et al. Neurobiol
Dis. 201421
Vaher U et al. J Child
Neurol. 201324
Kodera H et al. Hum Mutat.
201325
Willemsen MH et al. J Med
Genet. 201228
Anita Rauch et al. Lancet
201229
de Ligt J et al. N Engl J
Med. 201230
Gregor A et al. Am J Hum
Genet. 201331
Hamdan FF et al. Clin
Genet. 201332
Vissers LE et al. Nat Genet.
201033
Gilissen C et al. Nature.
201434
Genome of the Netherlands
Consortium. Nat Genet.
201435
1.
22368300
ID
WES
2 trios
2
2
0
2
0
0
0
0
51
62
15
87
20
23
1
24
23020937
ID
WES
71 trios (51 trios of
intellectual disability and
20 trios as control )
23033978
ID
WES
100 trios
100
70
9
79
0
0
0
0
23746550
ID
WES
4 trios
4
1
2
3
0
0
0
0
22670824
ID
WES
1 trios
1
1
0
1
0
0
0
0
21076407
ID
WES g
10 trios
10
8
1
9
0
0
0
0
24896178
ID
WGS
50 trios
50
79
5
84
0
0
0
0
24974849
Control
WGS
250 trios
0
0
0
0
250
11020
0
11020
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2.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ et al. De novo mutations revealed by whole-exome sequencing are strongly associated
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3.
O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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4.
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5.
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6.
Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 2012;
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7.
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8.
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9.
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10.
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11.
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12.
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13.
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14.
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15.
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16.
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17.
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18.
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19.
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20.
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21.
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22.
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34.
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