Marta Verby

An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics

The paper introduces BigRNA, an RNA foundation model that predicts RNA biology from DNA sequence and identifies therapeutic effects of SBOs on gene expression and splicing.

A systematic genotype-phenotype map for missense variants in the human intellectual disability-associated gene GDI1

This study creates a variant effect map for GDI1 missense variants using functional assays and machine learning to distinguish pathogenic from benign variants.

Transcriptome-Wide Off-Target Effects of Steric-Blocking Oligonucleotides

This study evaluates off-target effects of steric-blocking oligonucleotides using RNA-seq and finds that in silico methods have limited utility for predicting these effects.

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact

The paper measures the effects of VKOR variants on abundance and activity in human cells, revealing its topology, active site, and the impact of human variants.

ATP7B Variant c.1934T>G p.Met645Arg Causes Wilson Disease by Promoting Exon 6 Skipping

This paper shows that the ATP7B variant c.1934T>G causes exon 6 skipping, leading to loss of function and confirming its pathogenicity in Wilson Disease.

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

The paper creates a proactive map of CBS gene variant function and vitamin B6 response using yeast assays, predicting disease severity and therapy effectiveness.

Mapping DNA damage-dependent genetic interactions in yeast via party mating and barcode fusion genetics

The paper introduces BFG-GI to map DNA damage-dependent genetic interactions in yeast by combining party mating and barcode fusion genetics, revealing new condition-specific interactions.

Expanding the Atlas of Functional Missense Variation for Human Genes

This paper develops a deep mutational scanning framework to map functional missense variants in human genes and applies it to four proteins, identifying pathogenic variants and showing scalability to disease genes.