Alexandra Scott

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
• Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset
• Immortalization and Characterization of Schwann Cell Lines Derived from NF1 Associated Cutaneous Neurofibromas