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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases

Fig. 3

Result of Decision Trees analysis on the dataset deprived of the information about gCJD-causing mutations. Classification is accomplished with 0.71 accuracy for sAD and 0.85 for gCJD. Classification is based on the reported eight variants harboured in six genes. Four of these are variants of uncertain significance not reported in the GnomAD database harbored in the genes APP c.*1A > C (rs748508166), GRN c.1179 + 100A > T, DCTN1 p.Lys519Glu, PRKAR1B c.595 + 369 T > C (rs1342588350), two of them are rare (Minor Allele Frequency < 0.05) variants in the European population, APP p.Phe435 = (rs148180403, MAF = 0.001), DCTN1 p.Ala816 = (rs1130484, MAF = 0.007) and two are common benign variants in CHCHD10 (c.261 + 99A > G) and GSN (c.666 + 53 T > C). “Value” indicates the number of samples at the given node that fall into each category. The “Gini” score quantifies the purity of the node/leaf, when greater than zero implies that samples contained within that node belong to different classes while a gini score of zero means that within that node only a single class of samples exist

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