Svetlana A. Yatsenko

The paper introduces the Intolerome Database, a curated resource of genes essential for human viability, to help prioritize genomic variants in cases of stillbirth, pregnancy loss, and neonatal death.

The paper identifies genetic variants in 30 families with unexplained euploid pregnancy loss, finding monogenic causes in 25% of cases and expanding understanding of early human lethality.

The paper identifies 138 genes and variants associated with prenatal lethality across ethnic groups, suggesting preconception screening could identify couples at risk for miscarriage.

The paper analyzes chromosomal abnormalities in pregnancy loss samples to identify genetic mechanisms contributing to recurrent pregnancy loss.