Article

A Feasible Molecular Diagnostic Strategy for Rare Genetic Disorders Within Resource- Constrained Environments

2021-09-20

Abstract excerpt

<h4>Background: </h4> The timeous and accurate diagnosis of rare genetic disorders is critical, as it enables a better understanding of patient management, prognosis and more personalized treatment. A confirmed genetic diagnosis also enables accurate genetic counselling for affected individuals and their relatives by offering options for prenatal and cascade testing. In a resource-constrained environment such as t...

Topics

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

Identifiers and source

Literature Corpus work: 410d0d78-7be4-5791-a1d0-897be8518638
DOI: 10.21203/rs.3.rs-857929/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Feasible Molecular Diagnostic Strategy for Rare Genetic Disorders Within Resource- Constrained EnvironmentsDOI 10.21203/rs.3.rs-857929/v1Read

Genetic services in a resource-constrained African setting – diagnostic odysseys, limited testing strategies and the need for exome sequencingSemantic proximity Read

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseasesSemantic proximity Read

Rapid genome sequencing for pediatricsSemantic proximity Read

The Genomic Landscape of Rare Disorders in the Middle EastSemantic proximity Read

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to actionSemantic proximity Read

Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.Semantic proximity Read

The genomic landscape of rare disorders in the Middle EastSemantic proximity Read

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceSemantic proximity Read

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologiesSemantic proximity Read

Clinical application of next-generation sequencing for Mendelian diseases.Semantic proximity Read

Comparative Evaluation of Three Next Generation Sequencing - Based Non-Invasive Prenatal Testing Platforms in a Private South African LaboratorySemantic proximity Read

Availability and funding of clinical genomic sequencing globallySemantic proximity Read