Maartje van de Vorst

MetaDome now supports GRCh38 alongside GRCh37, adds coordinate lookup, and identifies 52,463 GRCh38 ClinVar missense variants of uncertain significance with uncontradicted pathogenic evidence at homologous Pfam-domain positions.

This paper introduces a whole genome sequencing-based haplarithmisis method for preimplantation genetic testing, improving coverage, reducing artifacts, and enabling new applications like trio-based aneuploidy detection.

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

The paper uses smMIPs to sequence MD-associated genes and loci in patients, achieving high coverage and a 38% diagnostic yield.

This study identifies associations between rare and common genetic variants in the IL-1 pathway and cytokine responses to various stimuli in healthy individuals.