Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits biorxiv.org/content/10.110…

A blog post on why minigraph is a good multi-assembly SV caller, especially for high-quality assemblies: lh3.github.io/2021/01/11/min…. In brief, you get access to complex long events hard to assay with typical SV callers. It is a powerful tool to study many closely related genomes.

evcna.com/article/view/4…

Ready to present our work on mining NIPT data at #ASHG21 Jasper Linthorst

Looks like our vamos preprint is up on biorxiv! This work by Jingwen Ren and Bida Gu (need to see if he's on Twitter) patches a pretty big hole in long-read analysis:

genome.cshlp.org/cgi/content/lo…

This paper is absolutely brilliant. And a very big finding. A single SNP increases the risk of inconclusive NIPT by 7 fold.

Good to see that our paper is finally out in Cell Reports: GWAS shows the genetics behind cell-free DNA and highlights the importance of p.Arg206Cys in DNASE1L3 for non-invasive testing cell.com/cell-reports/f…

amsterdamumc.org/en/spotlight/g…

Breaking Bad: Exploring & Complementing the Effects of the DNASE1L3 p.Arg206Cys Variant on Cell-Free DNA from an Isogenic Cell Line Model biorxiv.org/content/10.110…

Is science hitting a wall? Economists show increased research efforts are yielding decreasing returns bit.ly/2qOazty (By John Horgan)