Wolfram Höps

TL;DR: In this article, the authors present 64 assembled haplotypes from 32 diverse human genomes, which integrate all forms of genetic variation, even across complex loci, and identify 107,590 structural variants (SVs), of which 68% were not discovered with short-read sequencing.

TL;DR: In this article , the authors proposed that inversion recurrence results in an elevated number of heterozygous carriers and structural SD diversity, which increases mutability in the population and predisposes specific haplotypes to disease-causing copy number variants.

TL;DR: It is shown that when great ape lineage-specific duplications emerge, they preferentially occur in an inverted orientation compared to that at their ancestral locus, and the X chromosome is most enriched for inversions, on the basis of its size and duplication content.

TL;DR: The initial experiments suggest that less than 1% of the proteins in the UniProtKB sequence database are likely to be spurious and that Spurio is able to identify over 60 times more spurious proteins than the AntiFam resource.

TL;DR: This resource enables reliable graph-based genotyping from short reads of up to 50,340 SVs, resulting in the identification of 1,525 expression quantitative trait loci (SV-eQTLs) as well as SV candidates for adaptive selection within the human population.