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

Table 2 Summary of results of statistical analysis on each variant detected in our target sequencing panel

Disease group	Average number of SNV per patient	Unique SNV per disease group	Unique non-synonimous SNV per disease group	Unique SNV p < 0,05 per disease group
AD (46)	145.05	654	27	72
CJD (66)	134.87	768	11	33
E200K (26)	138.73	483	14	52
V210I (40)	135.73	645	27	75

Rows identify pathologic groups with their numerosity reported between brackets. The first column shows the average number of variants carried per patient in the different disease groups. The second column shows the overall number of different variants detected in each group in at least one patient. The third column indicates variants annotated as missense, splice variants or 3’or 5’ UTR in each disease group. The last column contains the number of variants with a p < 0.05 after Fisher’s exact test and Benjamini–Hochberg correction despite of their annotation

ISSN: 1755-8794