Kyle A. Beauchamp

The paper evaluates the clinical validity of expanded carrier screening panels by assessing gene-disease associations for 208 conditions using the ClinGen framework, finding strong evidence for all conditions.

This study evaluates the clinical impact and cost-effectiveness of a 176-condition expanded carrier screen compared to minimal screening, finding it reduces affected births and is cost-effective.

The paper introduces a new approach to molecular mechanics force fields using direct chemical perception, reducing parameter count while maintaining accuracy.

Bioconda provides a sustainable, comprehensive distribution of bioinformatics software using Conda for reproducible analysis across platforms.

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.

The paper introduces two optimized matrix multiply routines for calculating protein RMSD, achieving up to 3X speed improvement over existing libraries.