Michael F. Murray

This study identifies PAD-associated SNPs with stronger associations with surgical intervention than premature onset using UK Biobank data.

The paper describes how the Yale Generations Project adapted its recruitment, consent, and DNA sample acquisition processes to remote methods during the COVID-19 pandemic, resulting in continued enrollment and sample collection.

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.

The paper analyzes cryptic relatedness in a large exome cohort, identifies numerous close relationships, reconstructs pedigrees, and demonstrates their utility in improving mutation phasing and identifying de novo mutations.

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.

The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.