Papers: 10.3390/genes11040460

https://doi.org/10.3390/genes11040460

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Cited by: 36
Author(s): Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Daniš, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O. B. Jacobsen, Damian Smedley
Published: over 6 years ago

Software Mentions 3

cran: ontologyIndex
Reading Ontologies into R
Papers that mentioned: 3
Very Likely Science (83)
cran: ontologyPlot
Visualising Sets of Ontological Terms
Papers that mentioned: 2
Very Likely Science (83)
pypi: M
M
Papers that mentioned: 418
Very Likely Science (65)