Machine learning in onco-pharmacogenomics: A path to precision medicine with many challenges
A Mondello, M Dal Bo, G Toffoli… - Frontiers in Pharmacology, 2024 - frontiersin.org
Over the past two decades, Next-Generation Sequencing (NGS) has revolutionized the
approach to cancer research. Applications of NGS include the identification of tumor specific …
approach to cancer research. Applications of NGS include the identification of tumor specific …
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Carrier screening has historically assessed a relatively small number of autosomal
recessive and X-linked conditions selected based on frequency in a specific subpopulation …
recessive and X-linked conditions selected based on frequency in a specific subpopulation …
The spectrum of movement disorders in young children with ARX‐related epilepsy‐dyskinesia syndrome
Children with developmental and epileptic encephalopathies often present with co‐
occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that …
occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that …