AS
Publications
- Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene
- Phylogenomic analysis of bacterial and archaeal sequences with AMPHORA2
- The impact of structural variation on human gene expression
- The impact of rare variation on gene expression across tissues
- Genomic Analysis in the Age of Human Genome Sequencing
- Transcriptomic signatures across human tissues identify functional rare genetic variation
- Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
- Association of structural variation with cardiometabolic traits in Finns.
- Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
- Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.
- Genomic features of NF1-associated peripheral nerve sheath tumors: a cohort analysis from the Johns Hopkins NF1 biospecimen repository
- Devising a community research collaborative to explore schwannomatosis with integrative methods
- The Schwannomatosis Open Research Collaborative: a community-based approach to genomic research
- A community-driven and open-source pipeline to annotate and prioritize germline variants in schwannomatosis