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A Simple Standard for Sharing Ontological Mappings (SSSOM)

artículo científico publicado en 2022

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science

artículo científico publicado en 2022

Genome sequence of Enterobacter radicincitans DSM16656(T), a plant growth-promoting endophyte

artículo científico publicado en 2012

Genome sequences of 65 Helicobacter pylori strains isolated from asymptomatic individuals and patients with gastric cancer, peptic ulcer disease, or gastritis

artículo científico publicado en 2013

Genomic insights into the emerging human pathogen Mycobacterium massiliense

artículo científico publicado en 2012

KG-COVID-19: a framework to produce customized knowledge graphs for COVID-19 response

artículo científico publicado en 2020

KG-Hub -- Building and Exchanging Biological Knowledge Graphs

preprint published in 2023

KG-Hub—building and exchanging biological knowledge graphs

artículo científico publicado en 2023

Mondo: Unifying diseases for the world, by the world

Navigating the Phenotype Frontier: The Monarch Initiative

artículo científico publicado en 2016

Navigating the phenotype frontier: The Monarch Initiative

Plain-language medical vocabulary for precision diagnosis.

artículo científico publicado en 2018

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery

scientific article published on 01 January 2019

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

artículo científico publicado en 2022

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2020

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2017

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

artículo científico publicado en 2021

Use of model organism and disease databases to support matchmaking for human disease gene discovery

artículo científico publicado en 2015