Peter Konings

TL;DR: In this article, a new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells, which revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles.

TL;DR: This study establishes that chromosome instability is also common during early human embryogenesis and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.

TL;DR: eXtasy is introduced, an approach to prioritize nonsynonymous single-nucleotide variants (nSNVs) that substantially improves prediction of disease-causing variants in exome sequencing data by integrating variant impact prediction, haploinsufficiency prediction and phenotype-specific gene prioritization.

TL;DR: It is suggested that MHT‐users are at a decreased risk of esophageal and gastric adenocarcinoma and also of esophileal squamous cell carcinoma and the mechanisms behind these associations remain to be elucidated.