paperKB
coga / coga-kb
Help
Sign in

Chunk #14 — Results — Overview of data generation, alignment and variant discovery — Rates of variant discovery

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

Text

Variation detected by the project is not evenly distributed across the genome: certain regions, such as the HLA and subtelomeric regions, show high rates of variation, while others, for example a 5 Mb gene dense and highly conserved region around 3p21, show very low levels of variation (Supplementary Fig. 3a). At the chromosomal scale we see strong correlation between different forms of variation, particularly between SNPs and indels (Supplementary Fig. 3b). However, we also find heterogeneity particular to types of SV, for example SVs resulting from nonallelic homologous recombination are apparently enriched in the HLA and in subtelomeric regions (Supplementary Fig. 3b, top).