Rebekah Barrick

The paper introduces Watershed-DL, a framework integrating sequence-to-omics predictions and multi-omics data to prioritize rare variants, finding it increases prioritized variants by 61.4% and identifies candidate disease alleles.

This study evaluates the diagnostic yield of long-read genome sequencing in cases where short-read sequencing failed, finding an incremental yield of 4.7% due to LR-GS's ability to detect structural variants and other complex genomic features.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper identifies a mitochondrial insertion in ClpX that facilitates substrate recruitment and processing, with distinct roles in yeast and human systems.

The paper develops a CRISPRi system for studying essential genes in Pseudomonas aeruginosa, revealing gene function and small molecule interactions through phenotypic analysis.

Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.