Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

doi:10.1038/s41431-023-01523-5

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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

European journal of human genetics : EJHG - 1 Oct 2024

Poli M Cecilia, Rebolledo-Jaramillo Boris, Lagos Catalina, Orellana Joan, Moreno Gabriela, Martín Luz M, Encina Gonzalo, Böhme Daniela, Faundes Víctor, Zavala M Jesús, Hasbún Trinidad, Fischer Sara, Brito Florencia, Araya Diego, Lira Manuel, de la Cruz Javiera, Astudillo Camila, Lay-Son Guillermo, Cares Carolina, Aracena Mariana, Martin Esteban San, Coban-Akdemir Zeynep, Posey Jennifer E, Lupski James R, Repetto Gabriela M

Abstract excerpt

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and...

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PMID: 38177409
DOI: 10.1038/s41431-023-01523-5
PMCID: PMC11499817

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

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