Steven R. DePalma

Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 Using Rare Variant Linkage Analysis and Long Read Genome Sequencing

This study uses rare variant linkage analysis and long-read sequencing to identify a pathogenic FSHD1 allele in a family, mapping the disease locus to chromosome 4q35.2.

Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches

The paper develops a framework for de novo variant identification using FreeBayes and a neural network, achieving high accuracy in SNVs and indels through validation with Sanger sequencing.

Early post-zygotic mutations contribute to congenital heart disease

The paper identifies mosaic mutations in blood and cardiac tissue from CHD patients, finding 1% of cases have detectable mosaic variants that may contribute to congenital heart disease.