Browsing Centre for Clinical Pharmacology by Subject "human phenotype ontology"
Now showing items 1-2 of 2
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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
(MDPI, 2020-04)Next-generation sequencing has revolutionized rare disease diagnostics, but many patients remain without a molecular diagnosis, particularly because many candidate variants usually survive despite strict filtering. Exomiser ... -
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
(Wiley, 2022-07-24)Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic ...