Skip to main content

Table 3 Analysis of two ALS patients

From: DNAscan: personal computer compatible NGS analysis, annotation and visualisation

  Case A Case B
Analysis time (minutes) 30 460
Data size (MBs) 40 70,000
N. of ALS-related variants 13 33
N. of FTD-related variants 4 3
N. of non-synonymous variants 6 64
N. of variants with CADD> 13 6 748
N. long insertions 0 1
N. long deletions 0 3
N. Duplications 0 1
N. Inversions 0 0
C9orf72 expansion Yes
rs121909670 Yes
  1. Case A was sequenced with targeted MiSeq ALS gene panel and carries a pathogenic non-synonymous mutation (rs21909670) in the FUS gene. Case B was whole-genome sequenced and carries a pathogenic C9orf72 expansion