Andreas Schlattl

TL;DR: In this paper, the authors describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which are constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations.

TL;DR: An SV discovery method that integrates short insert paired-ends, long-range mate-pairs and split-read alignments to accurately delineate genomic rearrangements at single-nucleotide resolution, called DELLY, which enables to ascertain the full spectrum of genomic rearrANGements, including complex events.

TL;DR: The results suggest that association studies can gain in resolution and power by including fine-scale CNV information, such as those obtained from population-scale sequencing, as well as elucidated unexpected cases of negative correlations between copy number and expression.

TL;DR: The results indicate that the diploid yeast nuclear genome is remarkably stable during the vegetative and meiotic cell cycles and support the hypothesis that peripheral regions of chromosomes are more dynamic than gene-rich central sections where structural rearrangements could be deleterious.

TL;DR: The utility of CopySeq for analyzing gene regions enriched for segmental duplications is demonstrated by comprehensively inferring copy-number genotypes in the CNV-enriched >800 olfactory receptor (OR) human gene and pseudogene loci and for several OR loci the reference genome appears to represent a minor-frequency variant.