Carina G Biar

Locus-Scale Massively Parallel Reporter Assays

The paper introduces LAMPRAs to measure how cis-regulatory element composition affects gene expression using synthetic loci.

Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, FOXG1

The paper identifies a regulatory region in 14q12 that affects FOXG1 expression and contributes to neurodevelopmental disorders through noncoding structural variants.

An integrated, scaled approach to resolve TSC2 variants of uncertain significance

Abundance scores for 8,891 TSC2 missense variants, plus mTOR pathway activity scores for 391, were calibrated to ACMG/AMP evidence. They putatively reclassify 212 of 276 clinical-cohort missense VUS.

EpiPred: A gene-specific machine learning model for classifying missense variants in the epilepsy-related gene STXBP1

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

Principles and functional consequences of plasmid chromatinization in mammalian cells

This study shows plasmids can form chromatin structures in mammalian cells and uses plasmid Fiber-seq to map these structures and their functional consequences.

Multimodal framework to resolve variants of uncertain significance in TSC2

The paper develops TRUST, a machine learning model to predict pathogenicity of TSC2 missense variants, validated by functional assays, and provides a framework for VUS resolution.

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.