Nadia Carstens

This paper presents a chromosome-level genome assembly for Helichrysum odoratissimum to support genetic and functional studies.

The paper demonstrates that integrating CNV detection into exome sequencing analysis improves diagnostic yield for developmental disorders in the DDD-Africa cohort by 8.3% without additional costs.

The paper benchmarks the DNBSEQ-T7 sequencing platform using Genome in a Bottle reference genomes, showing high quality and variant detection accuracy across different library preparation workflows.

The paper describes international workshops training variant scientists on the ClinGen Variant Curation Interface (VCI) and reports on its usage and costs.