Bioinformatics for disease BRAIN A JOURNAL OF NEUROLOGY TGM6 identified as a novel causative gene of spinocerebellar ataxlas using exome sequencing Table 3 Direct identification of the causal gene for Family CS by exome sequencing Filter mple lIt Sample l: Sample l: 17 Sample MV: 1 Sample Sample Sample (whole/locus) (whole/locus) (whole/locus) (whole/locus) (: 6+1: 7) (: 6+L: 7+ll: 17) (IL: 6+ 1: 7+llL:17+I:1)affected (whole/locus) (whole/locus) (whole/locus (whole/locus) NS/SS/ndel 579634564905780/40 5842/37 309926 2443/20 3736396426-30 Not in dbSNP 129 8696 734/9 9318 134/3 68/2 07-2883-5 Not in dbSNP 129, nor in eight 616/6 5206 674/7 661/7 155/3 43B3 15/2 87-155/34 HapMap exomes Not in dbSNP 129, eight 341/6 75/1 48-101/1 dbsNP thousands genome Predicted to be damaging 211/1 03/1 214/1 212 36-52/1 Rows show the effect of excluding from consideration variants found in dbSNP129, the eight Hapi ap eames, the dsP 1000 genomes or all Co umrs show the effect of requiring that NS/SS/nde variants be observed in each affectedindividual Coumns 2-5)or two to four affected individuals( Coumns 6-8). Co'umm9 provide ranges of observatons that occur when all possbepermutations of two affected individuals sampe ll: 6, lE 7, ll:17. M:1)are used. (Whole/ocus: indicate NS/SS/Indel variants be observed n whole exome or in Locs region by linkage analysis Genomics and Bioinformatics, 2015 TMMUGenomics and Bioinformatics, 2015 TMMU Bioinformatics for disease