Table 1. Variant summary.
Variant Type | Call Rate Cutoff | Mean Error Rate | Total Variants | Variants Not Passing QC | Variants Passing QC | ||
---|---|---|---|---|---|---|---|
Non-singletons | RS | SNVs | 0.9 | 0.12% | 6,879,488 | 1,332,939 | 5,546,549 |
Insertions | 0.9 | 0.14% | 363,973 | 259,472 | 104,501 | ||
Deletions | 0.9 | 0.13% | 352,563 | 222,185 | 130,378 | ||
Novel | SNVs | 0.99 | 0.68% | 1,330,086 | 667,306 | 662,780 | |
Insertions | 0.99 | 0.97% | 577,508 | 547,690 | 29,818 | ||
Deletions | 0.99 | 0.42% | 306,776 | 232,648 | 74,128 | ||
Singletons | RS | SNVs | 0.99 | 0.42% | 277,650 | 89,448 | 188,202 |
Insertions | 0.99 | 1.37% | 28,185 | 27,089 | 1,096 | ||
Deletions | 0.99 | 0.50% | 24,822 | 21,613 | 3,209 | ||
Novel | SNVs | 0.99 | 0.14% | 5,522,109 | 5,302,013 | 220,096 | |
Insertions | 0.9 | 1.99% | 1,756,253 | 1,728,591 | 27,662 | ||
Deletions | 0.99 | 1.50% | 756,632 | 736,385 | 20,247 | ||
Total | SNVs | - | 0.27% | 14,009,333 | 7,391,706 | 6,617,627 | |
Insertions | - | 1.10% | 2,725,919 | 2,562,842 | 163,077 | ||
Deletions | - | 0.51% | 1,440,793 | 1,212,831 | 227,962 | ||
All Variants | - | 0.37% | 18,176,045 | 11,167,379 | 7,008,666 |
Variants present in 98 Hutterite genome sequences, shown by singleton (one alternative allele among the 98 sequenced samples) vs. non-singletons, by novelty (variants with and without rs numbers in dbSNP135), and by variant type (SNVs, insertions, deletions). Insertions and deletions are called relative to the NCBI build 37 reference human genome. The mean genotyping calling error rate is estimated using IBD2 segments (see text). QC is based on a combination of using CGI high-quality genotype calls and the shown call rate cutoffs.