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 |