Table 1 Summary of the results of next generation sequencing after exon enrichment of the interval on chromosome 4

From: Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Parameter Result
Total length of the enriched region 171 642 bp
Number of annotated (RefSeq) genes within the enriched region 46
Number of exons within the enriched region 580
Number of raw sequencing reads 25216 503 × 76 bp
Percentage of sequencing reads uniquely mapped on the genome 43.75%
Percentage of sequencing reads uniquely mapped within the enriched region 8.2%
Median sequencing depth within the enriched region 574 (redundant) or 129 (non-redundant)
Percentage of enriched region sufficiently covered (non-redundant coverage ≥4) 99.986%
Total number of SNVs detected 167
Total number of indels detected 31
Total number of novel SNVs detecteda 13
Total number of novel indels detecteda 22
Number of novel synonymous changes detected 34
Number of novel non-synonymous changes detected 1
  1. aNot annotated in dbSNP (version 130).
  2. Note: All variants mentioned in the list are located in the linkage interval (chr4: 47052 440–57488 508).