List of works - Daniel Danis - Paulina

List of works by Daniel Danis

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

scientific article published on 23 April 2020

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

scientific article published on 29 July 2020

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

article

The Human Phenotype Ontology in 2021

scientific article published on 02 December 2020

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

Paulina is supported by:

About Paulina

Help