-
Article
Open AccessIntegration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation remain a challenge. Here, we investigate 11 individual...
-
Article
Open AccessTADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs
Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through assisted manual filtering an...
-
Article
Open AccessGenome sequencing in families with congenital limb malformations
The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all gene...
