Shane McCarthy

Detection of rare disease-related genetic variants using the birthday model

The paper introduces a probabilistic method based on the birthday model to detect rare disease-related genetic variants in complex disorders, showing its effectiveness in identifying potential causative genes.

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

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.

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

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