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UnknownConsistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.

Background

Large language models (LLMs) are increasingly used medicine for diverse applications including differential diagnostic support. The training data used to create LLMs such as the Generative Pretrained Transformer (GPT) predominantly consist of English-language texts, but LLMs could...
S-EPMC12552141 | biostudies-literature
UnknownARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Purpose

ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients...
S-EPMC11613905 | biostudies-literature
UnknownComprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHM...
S-EPMC11339614 | biostudies-literature
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