Justin B. Schleede

Exome-wide rare variant genetic load is associated with cognition, intellectual disability and psychiatric disorders in population-based cohorts

The paper assesses the association between rare variant genetic loads and cognitive traits, intellectual disability, and psychiatric disorders in population-based cohorts.

Prioritizing embryos with lower homozygosity may reduce disease risk in children of related individuals undergoing preimplantation genetic testing

This paper proposes using embryo-level autozygosity as a biomarker to prioritize embryos with lower disease risk in preimplantation genetic testing for couples with consanguinity.

ImputePGTA: accurate embryo genotyping and polygenic scoring from ultra-low-pass sequencing

ImputePGTA improves embryo genotyping and polygenic scoring from ultra-low-pass sequencing by jointly inferring inheritance and parental haplotype phasing.

First clinical validation of whole genome screening on standard trophectoderm biopsies of preimplantation embryos

This paper validates whole genome sequencing on trophectoderm biopsies of preimplantation embryos, showing high accuracy and enabling comprehensive genetic analysis.