Anthony McGuigan

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.