Associated Papers
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory.
O'Brien TD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
Trelles MP et al.
Molecular Autism, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
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