Gabriel A. Lazarin

This paper classifies 176 genes on an expanded carrier screening panel into severity categories using an algorithm and maps these classifications to ACOG severity criteria.

The paper evaluates methods for designing expanded carrier screening panels and finds that full-exon sequencing outperforms targeted genotyping in detecting affected fetuses.

The paper estimates SLOS carrier frequencies and in utero mortality rates by analyzing carrier screening data and comparing predicted to observed birth incidences.