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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