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Table 3 Genomic deletions and breakpoints identified by the assay

From: A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

Patient ID Gene Genomic event Breakpoint identified by NGS system Breakpoint identified by amplification of the deletion junction
Chromosome Starta Enda Size (bp) Average ratiob Chromosome Start End Size (bp)
F16 FLCN Deletion exons 1–3 17 17134237 17141880 7644 0.377 17 17134286 17141828 7543
F17 FLCN Deletion exons 14 17 17115904 17117646 1743 0.534 17 17115898 17117706 1809
F18 FLCN Deletion exons 9–14 17 untargeted regionc 17123085 --- 0.513 17 17115206 17123002 7747
F19 FLCN Deletion exons 9–14 17 untargeted regionc 17123085 --- 0.516 17 17115206 17123002 7747
  1. aBreakpoints are defined by the external boundaries of 20 bp-intervals. Breakpoints are flanked by Alu repeats
  2. bAverage of normalized depth ratio of each 20 bp-interval
  3. cThe breakpoint is within the 3′ flank of the FLCN gene, which was not included in the panel