Browsing Centre for Clinical Pharmacology by Subject "rare disease"
Now showing items 1-4 of 4
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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 ...