De novo mutations

We collected de novo mutations from 10 studies.

Study ID Journal Design Sample size Sequence Platform Sequencer PMID
DNM:Guipponi_2014 PLoS One Trios 53 sporadic schizophrenia patients and their non-affected parents Whole Exome Sequencing Agilent SureSelect Human ALL Exon kits HiSeq 25420024
DNM:Girard_2011 Nature Genetics Trios 14 schizophrenia probands and their parents Whole Exome Sequencing Agilent SureSelect Human ALL Exon kits HiSeq 21743468
DNM:Takata_2014 Neuron Trios and case/control 231 case and 34 control trios Whole Exome Sequencing Agilent SureSelect v2 (n = 85 trios), NimbleGen SeqCap EZ v2 (n = 180 trios) HiSeq 24853937
DNM:McCarthy_2014 Molecular Psychiatry Trios 57 trios with sporadic or familial schizophrenia Whole Exome Sequencing NimbleGen SeqCap EZ Human Exome Library v2.0 probes HiSeq (101 bp PE reads) 24776741
DNM:Fromer_2014 Fromer Trios 623 schizophrenia trios Whole Exome Sequencing Agilent SureSelect Human All Exon v.2, Nimblegen SeqCap EZ Human Exome Library v2.0, Agilent SureSelect Human All Exon 50MB HiSeq (76 bp, 101 bp, 76 bp PE reads) 24463507
DNM:Gulsuner_2013 Gulsuner Family 399 persons, including 105 probands with schizophrenia, 84 unaffected siblings, and their 210 unaffected parents Whole Exome Sequencing NimbleGen SeqCap EZ Human Exome Library v2.0 HiSeq (101 bp PE reads) 23911319
DNM:Xu_2012 Nature Genetics Family 795 exomes from 231 parent-proband trios enriched for sporadic schizophrenia cases, plus 34 unaffected trios. Whole Exome Sequencing Agilent SureSelect v2 (n = 85 trios), NimbleGen SeqCap EZ v2 (n = 180 trios) HiSeq 23042115
DNM:Xu_2011 Nature Genetics Family 53 sporadic cases, 22 unaffected controls and their parents Whole Exome Sequencing Agilent SureSelect Human All Exon Target Enrichment System HiSeq (50 bp PE reads) 21822266
DNM:Awadalla_2010 AJHG Family ASD and SCZ cases (n = 285) and 285 controls, with available parental DNA. Targeted Sequencing 401 synapse-expressed genes Sanger 20797689
DNM:Kranz_2015 Schizophrenia Research Trios 14 parent-offspring trios. Targeted Sequencing and Whole Exome Sequencing Custom Nimblegen SeqCap EZ Illumina MiSeq or HiSeq 2500 sequencer 26091878
DNM:Ambalavanan_2016 European Journal of Human Genetics Trios 17 childhood-onset schizophrenia (COS) probands with their parents. Whole Exome Sequencing SureSelect Human All Exon V4 kit Illumina HiSeq 2000 26508570
Footnote: The data in DNM:Xu_2011 has been included in DNM:Xu_2012.

Data summary

Study ID # of genes with non-silent mutations # of genes with only intronic or silent mutations
DNM:Awadalla_2010 13 2
DNM:Fromer_2014 503 137
DNM:Girard_2011 15 0
DNM:Guipponi1_2014 49 0
DNM:Kranz_2015 4 1
DNM:McCarthy_2014 66 0
DNM:Xu_2012 150 32