Carolina Jaramillo Oquendo

Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts

The paper investigates missense spliceogenic variants (MSVs) using genomic and proteomic data, finding they are common and can cause disease through splicing disruption, often missed by protein-centric tools.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

Predicting the impact of rare variants on RNA splicing in CAGI6

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders

This study uses RNA-sequencing to identify novel diagnoses in Mendelian disorders by detecting aberrant splicing and expression abnormalities, particularly in patients without candidate sequence variants.

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

The paper identifies non-coding variants in trans with coding variants in patients with developmental disorders, finding them to be a rare cause of recessive disorders.