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Article

Rare disorders have many faces: in silico characterization of rare disorder spectrum.

Orphanet journal of rare diseases - 22 Feb 2022

Frederiksen Simona D, Avramović Vladimir, Maroilley Tatiana, Lehman Anna, Arbour Laura, Tarailo-Graovac Maja

Abstract excerpt

BACKGROUND: The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines. To better understand this, we characterized the rare disorder (RD) spectrum using various bioinformatics resources...

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Identifiers

PMID: 35193637
DOI: 10.1186/s13023-022-02217-9
PMCID: PMC8864832

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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