Article
A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population
2016-01-18
Abstract excerpt
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full spectrum of these variants nor integrate them into reference panels of genetic variation. Here, we analyse whole genome sequencing data of 769 individuals from 250 Dutch families, and provide a haplo...
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Identifiers and source
- Literature Corpus work
- dfe04091-d6cf-5902-b95b-16e5d52367ad
- DOI
- 10.1101/036897