Skip to main content

Table 1 Variant ascertainment and homozygosity mapping in four mouse mutant lines

From: Variant mapping and mutation discovery in inbred mice using next-generation sequencing

  Mouse mutant J318 K416 J328 J327
  Phenotype hind limb weakness smooth skin, barrier defect Caudal truncation, cranio-facial defects, syndactyly embryonic growth retardation
WGS Samples pooled 5 4 5 4
Genome coverage 16.6X 25.7X 14.2X 8.9X
Number of regions of homozygosity 1 1 2 1
Size of the homozygosity region 25 Mb 38 Mb 88 Mb/43 Mb 53 Mb
coverage ≥ 5 90 % 89 % 83 % 80 %
Informative SNPs 3171 3430 2032 2219
WES Samples pooled 3 4 3 3
Exome coverage 117X 17Xa 121X 160X
Number of regions of homozygosity 1b 1 2 1
Size of the homozygosity region 24 Mbb 83 Mb 78 Mb/26 Mb 49 Mb
coverage ≥ 5 99 % 90 % 96 % 95 %
Informative SNPs 152 30 127 97
  1. avirtual exome (see methods)
  2. bHomozygous region does not contain the causal variant