Capture-based high | 合法醫療器材資訊網

由JWang著作·2016·被引用20次—CaptureNGShastheabilitytoeasilydetectSNVsandsmallindels.However,genomicchangesinvolvingexonicdeletions/duplicationsand ...

Given the read length of 100 bp in targeted sequences, deletions less than one-third of the read length can usually be precisely annotated by NextGENe viewer. Patient 1 was a 1-year-old boy with hepatomegaly and hypertriglyceridemia ( Table 1[1] ). Two heterozygous mutations, c.3843_3853del11 (p.S1282Nfs*6) and c.2681+1G>A, were detected in the AGL gene (NM_000642.2). The novel 11 nucleotides, deletion (delGTCTGCTGTGG), c.3843_3853del, can be correctly identified and annotated by NGS analysis software ( Figure 1[2] ). It is predicted to result in a premature stop codon (p.S1282Nfs*6), and is therefore categorized as a pathogenic variant.11 The c.2681+1G>A variant has been reported in patients with glycogen storage disease type III.12,13 This change is predicted to disrupt the invar...