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Table 1 Estimated parameters of proportions of risk genes (pi) and mean relative risk (meanRR) for DN and CC SCZ data and four other NDDs: ID, EPI, ASD and DD

From: Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

Parameter Estimated Lower credible Upper credible
  mode interval boundary interval boundary
SCZ_pi (%) 8.01 4.59 12.9
SCZ_meanRR_silentFCPk_denovo 1.22 1.00 2.16
SCZ_meanRR_MiD_denovo 1.44 1.00 3.16
SCZ_meanRR_LoF_denovo 12.25 4.79 22.22
SCZ_meanRR_MiD+LoF_CCpop1 2.09 1.04 3.54
SCZ_meanRR_MiD+LoF_CCpop2 2.44 1.05 5.73
SCZ_meanRR_MiD+LoF_CCpop3 1.04 1 1.19
ASD_pi (%) 4.44 3.15 5.94
ASD_meanRR_MiDdenovo 3.71 2.06 8.71
ASD_meanRR_LoFdenovo 24.56 14.27 37.44
ASD_meanRR_LoFcc 4.04 2.08 8.24
ID_pi (%) 2.53 1.89 3.43
ID_meanRR_MiDdenovo 29.82 18.86 46.1
ID_meanRR_LoFdenovo 105.45 73.27 143.29
DD_pi (%) 2.84 2.29 3.45
DD_meanRR_MiDdenovo 23.42 13.97 33.97
DD_meanRR_LoFdenovo 88.32 67.54 115.09
EPI_pi (%) 1.14 0.52 2.1
EPI_meanRR_MiDdenovo 72.2 35.39 128.46
EPI_meanRR_LoFdenovo 89.71 45.31 169.43
  1. These results were obtained by sampling three MCMC chains (20,000 times for each chain). These results are for three categories: loss of function (LoF) variants/mutations, missense damaging (MiD) variants/mutations, and silent within frontal cortex-derived DHS peaks (silentFCPk) variants.
  2. ASD autism spectrum disorders, CC case–control, DD developmental disorder, DN de novo, EPI epilepsy, ID intellectual disability, LoF loss of function, MCMC Markov chain Monte Carlo, MiD missense damaging, NDD neurodevelopmental disorder, SCZ schizophrenia, silentFCPk silent within frontal cortex-derived DHS peaks