Niko Popitsch

TL;DR: It is found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy.

TL;DR: The cost of genome sequencing is underestimated if only sequencing costs are considered, and likely surpasses $1000/genome in a single laboratory if consumable costs are considerably reduced and sequencing is performed at scale.

TL;DR: It is suggested that RelBbu globally modulates transcription in response to nutrient stress by increasing (p)ppGpp levels to facilitate B. burgdorferi persistence in the tick.

TL;DR: NGC enables lossless and lossy compression and introduces the following two novel ideas: first, a way to reduce the number of required code words by exploiting common features of reads mapped to the same genomic positions; second, a highly configurable way for the quantization of per-base quality values, which takes their influence on downstream analyses into account.

TL;DR: Understanding of the range of disease phenotypes and disease genes associated with deficiencies of the GPI-anchor biosynthesis pathway is contributed and the potential importance of analysing variants detected in 5′-UTR regions despite their typically low coverage in exome data is highlighted.