Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2018

Bergant Gaber, Maver Ales, Lovrecic Luca, Čuturilo Goran, Hodzic Alenka, Peterlin Borut

Abstract excerpt

PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic yield and their clinical feasibility.MethodsWe retrospectively analyzed the results of genetic testing in 1,059 distinct cases referred for exome sequencing to our institution. In these, we routinely employed extended exome analysis approaches in addition to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Exome Sequencing

Share to Genetic Testing

Share to Genome, Mitochondrial

Share to Rare Diseases

Source

Identifiers

PMID: 28914264
DOI: 10.1038/gim.2017.142

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.PMID 28914264Read ↗

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesSemantic proximity Read ↗

Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis.Semantic proximity Read ↗

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

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studySemantic proximity Read ↗

The usefulness of whole-exome sequencing in routine clinical practice.Semantic proximity Read ↗

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.Semantic proximity Read ↗

Limitations of exome sequencing in detecting rare and undiagnosed diseases.Semantic proximity Read ↗

The Rise and Rise of Exome Sequencing.Semantic proximity Read ↗

Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingSemantic proximity Read ↗

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohortSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.