Jonas Koeppel

2 months ago | science.org | Saikat Ray |Andrew Liu |Jonas Koeppel |Raphael Ferreira

Editor’s summaryTo date, our ability to functionally interrogate the consequences of structural variation in the human genome has been stymied by our inability to efficiently engineer one or many structural variants to study. Koeppel et al. and Pinglay et al. developed SCRaMbLE and Genome-Shuffle-seq, respectively, enabling the multiplex generation of thousands of structural variants in human and mouse genomes in a single experiment (see the Perspective by Seczynska and Steinmetz).

Jan 14, 2025 | biorxiv.org | Jonas Koeppel |Pierre Murat |Gareth Girling |Elin Madli Peets

AbstractHuman gene expression is controlled from distance via enhancers, which can form longer "super-enhancer"-regions of intense regulatory activity. Whether super-enhancers constitute a separate regulatory paradigm remains unclear, largely due to the difficulty of dissecting the contributions and interactions of individual elements within their natural chromosomal context.

Nov 12, 2024 | nature.com | Jonas Koeppel |Juliane Weller

AbstractStructural variation, such as deletions, duplications, inversions and complex rearrangements, can have profound effects on gene expression, genome stability, phenotypic diversity and disease susceptibility. Structural variants can encompass up to millions of bases and have the potential to rearrange substantial segments of the genome. They contribute considerably more to genetic diversity in human populations and have larger effects on phenotypic traits than point mutations.

Oct 18, 2024 | nature.com | Matthew A. Coelho |Magdalena E. Strauss |Shriram Bhosle |Sara Vieira |Daniela Conticelli |Jonas Koeppel | +4 more

AbstractDrug resistance is a principal limitation to the long-term efficacy of cancer therapies. Cancer genome sequencing can retrospectively delineate the genetic basis of drug resistance, but this requires large numbers of post-treatment samples to nominate causal variants.

Jan 23, 2024 | biorxiv.org | Sudarshan Pinglay |Jean-Benoît Lalanne |Riza M. Daza |Jonas Koeppel

AbstractThe functional consequences of structural variants (SVs) in mammalian genomes are challenging to study.