Peter Krawitz

TL;DR: The results demonstrate the functional importance of TADs for orchestrating gene expression via genome architecture and indicate criteria for predicting the pathogenicity of human structural variants, particularly in non-coding regions of the human genome.

TL;DR: In this article, semantic similarity metrics are used to measure phenotypic similarity between queries and hereditary diseases annotated with the use of the Human Phenotype Ontology (HPO) and a statistical model is developed to assign p values to the resulting similarity scores, which can be used to rank the candidate diseases.

TL;DR: It is demonstrated that CRISPR/Cas9 mutagenesis in zebrafish is highly efficient, reaching up to 86.0%, and is heritable, making it a powerful genome engineering tool for in vivo studies.

TL;DR: A facial image analysis framework, DeepGestalt, is presented, using computer vision and deep-learning algorithms, that quantifies similarities to hundreds of syndromes and potentially adds considerable value to phenotypic evaluations in clinical genetics, genetic testing, research and precision medicine.

TL;DR: It is proposed that exome sequencing projects should systematically capture clinical phenotypes to take advantage of the strategy presented here and conclude that incorporation of phenotype data can play a vital role in translational bioinformatics.