Eric A. Evans

This paper validates an expanded carrier screen with high sensitivity and specificity, showing significant improvements in detecting fetal disease risk through CNV calling and challenging conditions.

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

This study compares whole-genome sequencing and SNP methods for noninvasive prenatal screening at low fetal fractions, finding WGS detects more aneuploidies and avoids unnecessary invasive procedures.

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

SSCM-Pathogenic is a genome-wide, allele-specific score that predicts variant pathogenicity using a semi-supervised clustering algorithm, showing effectiveness in both coding and noncoding regions.