Scott T. Younger

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

Rapid and scalable preclinical evaluation of personalized antisense oligonucleotide therapeutics using organoids derived from rare disease patients

This paper describes a platform for generating patient-derived organoids to evaluate personalized antisense oligonucleotide therapeutics for rare diseases, showing reversal of disease phenotypes in Duchenne muscular dystrophy models.

Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

The paper identifies functionally consequential noncoding variants in undiagnosed rare disease patients using a massively parallel reporter assay and integrative analysis.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.