Cynthia A. Prows

The paper presents a genetic resource of 15,684 individuals of African ancestry, demonstrating its utility in replicating and discovering disease associations.

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

The paper validates genetic sex using a 96-SNP PCR panel to track samples in clinical testing and identify inconsistencies.

The paper discusses using human sequencing and CRISPR-Cas9 to study a novel craniofacial syndrome, finding that a variant in AMOTL1 causes lethality in mice but its pathogenicity in humans remains unclear.

The paper identifies COPB2 mutations as a cause of human microcephaly and shows that Copb2 is essential for embryogenesis and corticogenesis in mice.