paperKB
coga / coga-kb
Help
Sign in

Chunk #29 — Results — Genotype accuracy

Source
A map of human genome variation from population-scale sequencing.
Embedded
yes

Text

The accuracy and completeness of the individual genome sequences in the low coverage project could be estimated from the trio mothers, each of whom was sequenced to high coverage, and for whom data subsampled to 4x were included in the low coverage analysis. Comparison of the SNP genotypes in the two projects showed that where the CEU mother had at least one variant allele according to the trio analysis, in 96.9% of cases the variant was also identified in the low coverage project and in 93.8% of cases the genotype was accurately inferred. For the YRI trio mother the equivalent figures are 95.0% and 88.4% respectively (note that false positives in the trio calls will lead to underestimates of the accuracy).