Table 1 Summary of WGS of Japanese individuals and variant detection in autosomes.
From: Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Info | ||
Total samples | 1,070 | |
Total raw bases | 100.4 trillion bases | |
Mean sequenced depth | 32.4 × | |
SNVs | High-sensitive SNVs | High-confidence SNVs |
Total | 29,588,649 | 21,221,195 |
Number of known variants* | 12,308,520 | 9,219,783 |
Number of novel variants* | 17,280,129 | 12,001,412 |
Novelty rate | 58.40% | 56.55% |
Average number per sample | 3,886,081 | 2,716,853 |
Average individual heterozygosity | 2,252,841 | 1,532,773 |
Length | ||
Deletions | 1 bp≤length<100 bp | 100 bp≤length |
Number of sites overall | 1,969,302 | 47,343 |
Number of novel variants† | 1,429,636 | — |
Novelty rate | 72.60% | — |
Number of inframe/frameshift | 3,112/4,454 | — |
Average number per sample | 190,857 | 2,654 |
Length | ||
Insertions | 1 bp≤length<100 bp | 100 bp≤length |
Number of sites overall | 1,384,230 | 9,354 |
Number of novel variants† | 1,037,839 | 9,354 |
Novelty rate | 74.98% | — |
Number of inframe/frameshift | 1,577/2,506 | — |
Average number per sample | 159,359 | 45 |
