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Article

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases.

PLoS genetics - 1 Oct 2020

Díaz-Santiago Elena, Jabato Fernando M, Rojano Elena, Seoane Pedro, Pazos Florencio, Perkins James R, Ranea Juan A G

Abstract excerpt

Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with similar phenotypes and looking for overlap in terms of shared genes and underlying functional systems. However, few studies have combined comorbidity analysis with genomic data. We present a computational...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33001999
DOI: 10.1371/journal.pgen.1009054
PMCID: PMC7553355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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