Article

Decoding Complex Inherited Phenotypes in Rare Disorders: The DECIPHERD initiative for rare undiagnosed diseases in Chile.

2023-09-06

Abstract excerpt

<title>Abstract</title> <p>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 h...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f5808adf-42dc-5c42-b539-dbfdcefca8fb
DOI: 10.21203/rs.3.rs-3232133/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Decoding Complex Inherited Phenotypes in Rare Disorders: The DECIPHERD initiative for rare undiagnosed diseases in Chile.DOI 10.21203/rs.3.rs-3232133/v1Read

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

Features Influencing Diagnostic Yield of Exome Sequencing in the DECIPHERD Study in ChileSemantic proximity Read

Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost projectSemantic proximity Read

SpainUDP: The Spanish Undiagnosed Rare Diseases Program.Semantic proximity Read

Diagnostic yield and clinical utility of whole-exome sequencing in pediatric patients with rare and undiagnosed diseases: a prospective, single-center study from the Czech RepublicSemantic proximity Read

SpainUDP: The Spanish Undiagnosed Rare Diseases ProgramSemantic proximity Read

Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 PatientsSemantic proximity Read

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Semantic proximity Read

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseasesSemantic proximity Read

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases ProgramSemantic proximity Read

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin PopulationSemantic proximity Read

The Korean undiagnosed diseases program: lessons from a one-year pilot projectSemantic proximity Read