David P Bick

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study

The paper assesses an automated variant prioritisation strategy for genomic newborn screening in the Generation Study, finding that 3-5% of samples require manual review and <1% need confirmatory testing.

Data-driven consideration of genetic disorders for global genomic newborn screening programs

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Reducing Sanger Confirmation Testing through False Positive Prediction Algorithms

This study uses machine learning to predict false positive variants in clinical genome sequencing, reducing the need for confirmatory Sanger testing by 78.22%.

Loss-of-function in IRF2BPL is associated with neurological phenotypes

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.