Cairbre Fanslow

Identification of de novo variants from parent-proband duos via long-read sequencing

duoNovo identifies de novo variants from parent-proband duos using long-read sequencing, achieving high precision and low error rates in diagnostic evaluations.

The Platinum Pedigree: A long-read benchmark for genetic variants

The paper creates a long-read benchmark for genetic variants using a large pedigree, improving variant calling performance and introducing new truth sets for tandem repeats and structural variants.

Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing

This study uses long-read genome sequencing to diagnose three previously undiagnosed inherited retinal dystrophy cases by identifying structural and deep intronic variants missed by short-read sequencing.

A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree

The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.

Long-Read Sequencing Increases Diagnostic Yield for Pediatric Sensorineural Hearing Loss

This study evaluates the diagnostic yield of long-read sequencing in pediatric sensorineural hearing loss, finding it detects structural variants missed by short-read sequencing.