Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Motivation: Whole-genome high-coverage sequencing has been widely used for personal
and cancer genomics as well as in various research areas. However, in the lack of an …

Type 2 diabetes mellitus (T2D) is a growing health problem, but little is known about its early
disease stages, its effects on biological processes or the transition to clinical T2D. To …

The kākāpō is a flightless parrot endemic to New Zealand. Once common in the archipelago,
only 201 individuals remain today, most of them descending from an isolated island …

Precision health relies on the ability to assess disease risk at an individual level, detect early
preclinical conditions and initiate preventive strategies. Recent technological advances in …

Much has been learned about the diversity and distribution of human-associated microbial
communities, but we still know little about the biology of the microbiome, how it interacts with …

Personalized medicine is expected to benefit from combining genomic information with
regular monitoring of physiological states by multiple high-throughput methods. Here, we …

Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

Background To facilitate the clinical implementation of genomic medicine by next-generation
sequencing, it will be critically important to obtain accurate and consistent variant calls on …

Advances in omics technologies now allow an unprecedented level of phenotyping for
human diseases, including obesity, in which individual responses to excess weight are …