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Table 2 Variant loci detected by TargetSeq-Proton and SureSelect-HiSeq sequencing

From: Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling

  Total locia Co-detected loci(%)b Concordant locic Disconcordant loci(TargetSeq-Proton/SureSelect-HiSeq)d
  Hom/Hom Hom/Het Het/Hom Het/Het
S1 25466 17314(68.0) 17202 1 15 93 3
S2 25413 19148(75.3) 19039 2 20 84 3
S3 25429 18222(71.7) 18087 1 26 104 4
S4 25080 17937(71.5) 17808 1 16 111 1
  1. aTotal loci: all variant loci in the overlapping regions detected by HiSeq 2000 or Ion Proton sequencing, which include the Concordant, Disconcordant, TargetSeq-HiSeq-specific and SureSelect-Proton-specific loci
  2. bCo-detected loci: the variant loci co-detected by TargetSeq-HiSeq and SureSelect-Proton sequencing, which include Concordant and Disconcordant loci. The number in parentheses is percentage
  3. cConcordant loci: the variant loci with the same genotype detected by between TargetSeq-HiSeq and SureSelect- Proton sequencing
  4. dDisconcordant loci: the loci with different variant genotype detected by between TargetSeq-Proton and SureSelect-HiSeq. Hom/Het refers to the loci whose variant genotype is homozygotes detected by TargetSeq-Proton, but heterozygotes detected by SureSelect-HiSeq. Hom/Hom, Het/Hom and Het/Het refer to analogous variant genotype