David Cheerie

Population-scale genome-wide prioritization of targets for allele-specific antisense oligonucleotide therapy design

This paper identifies population-scale SNV targets for allele-specific ASO therapy design, achieving high coverage across diverse ancestry groups and supporting clinical relevance.

A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines

The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.

A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases

The paper develops a scalable platform for designing exon-skipping ASOs to treat genetic diseases by identifying dispensable exons and validating their therapeutic potential.

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

Leveraging cancer mutation data to predict the pathogenicity of germline missense variants

This study uses cancer mutation data and machine learning to predict the pathogenicity of germline missense variants, showing strong performance in identifying disease-causing variants.

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

The paper assesses the impact of rare canonical splice site variants on splicing using functional and in silico methods, finding that 24% of variants do not cause loss-of-function.