Article

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: A randomized controlled trial

2021-03-29

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report describes the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspected genetic conditions and who are in the early stages of the diagnostic odyssey. <bo...

Topics

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

Identifiers and source

Literature Corpus work: a33c5b21-b3d4-5db3-bd8c-b6cec7da5795
DOI: 10.21203/rs.3.rs-306082/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: A randomized controlled trialDOI 10.21203/rs.3.rs-306082/v1Read

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?Semantic proximity Read

Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocolSemantic proximity Read

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Semantic proximity Read

A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencingSemantic proximity Read

Clinical exome sequencing for genetic identification of rare Mendelian disorders.Semantic proximity Read

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsSemantic proximity Read

The clinical utility of exome and genome sequencing across clinical indications: a systematic review.Semantic proximity Read

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City childrenSemantic proximity Read

Clinical utility of exome sequencing in a pediatric epilepsy cohort.Semantic proximity Read

Genome-Scale Sequencing in Clinical CareSemantic proximity Read

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Semantic proximity Read

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City childrenSemantic proximity Read