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Article

Correlations Between Phenotypes and Biological Process Ontologies in Monogenic Human Diseases.

Interdisciplinary sciences, computational life sciences - 1 Dec 2020

Zhang Chenfang, Genchev Georgi Z, Bergau Dennis, Lu Hui

Abstract excerpt

A substantial body of research is focused to improve the understanding of the relationship between genotypes and phenotypes. Genotype-phenotype studies have shown promise in improving disease diagnosis in humans and identification of specific clinical phenotypes may be helpful in developing more effective therapeutic and diagnostic strategies. To expand on the existing paradigm of evaluating genotypes and...

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PMID: 33113078
DOI: 10.1007/s12539-020-00400-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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