Alexandra J. Scott

Immortalization and Characterization of Schwann Cell Lines Derived from NF1 Associated Cutaneous Neurofibromas

The paper develops and characterizes semi-immortalized Schwann cell lines from NF1-associated cutaneous neurofibromas to aid in studying and developing therapies for NF1.

Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset

The paper provides an integrated genomic analysis of NF1-associated peripheral nerve sheath tumors using RNAseq and WES data from 73 and 114 samples, respectively, accessible via the NF Data Portal.

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes

The paper identifies structural variants as a major source of gene expression differences, showing they affect multiple genes and have broader expression effects than SNVs or indels.

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

Association of Structural Variation with Cardiometabolic Traits in Finns

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

The impact of rare variation on gene expression across tissues

The paper identifies rare variants contributing to extreme gene expression changes across tissues and introduces RIVER, a Bayesian method to prioritize functional variants.