Catalina Betancur

Large language model classifies prior evidence in gene-phenotype associations

PESTO classifies gene-phenotype associations as Novel, Hypothesized, Existing, or Established using a large language model and structured genetic evidence, identifying 7% as Novel and 21% as Hypothesized in 940 associations.

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder

The paper develops a model to analyze X-linked rare variation in ASD, identifying 9 genes associated with ASD and explaining how X-linked variation could contribute to sex-differential prevalence.

Astrocytes control cocaine-induced synaptic plasticity and reward through the matricellular protein hevin

The paper shows that astrocyte calcium signals and the protein hevin mediate cocaine-induced reward and synaptic plasticity in the nucleus accumbens.

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain

This study shows OCT2 regulates tryptophan availability in the brain, affecting SSRI efficacy in a depression model.