Jessie C. Jacobsen

This paper presents a protocol for minigene assays to validate splice-altering variants using locus-specific design, gene synthesis, and long-read sequencing.

The paper identifies transcriptional upregulation of glutamate receptors and downregulation of oxidative phosphorylation in an ovine HD model before neuronal loss and motor symptoms.

This study identifies causal genes and genetic loci linking autism to co-occurring traits using Mendelian Randomisation and eQTL integration.

This study compares single cell RNA-seq data from frozen tissue cells and nuclei, finding nuclei provide higher quality data with more gene and UMI counts and better clustering resolution.

The paper develops a multiplexing assay for MinION sequencing to identify genetic variants in small genomic regions, achieving accurate results for most targets despite sequencing biases.

RBV prioritises and validates copy number variations using read balance from genome or exome sequencing data.

This study evaluates CNV detection tools for deletions in WGS data, finding Breakdancer and Delly perform best with high sensitivity and moderate FDR.