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

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

12 Aug 2017

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Genetic factors in colorectal cancer
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28807864
DOI: 10.1016/j.ejmg.2017.08.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesPMID 28807864Read ↗

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 ↗

Impact of Next-Generation Whole-Exome sequencing in molecular diagnosticsSemantic proximity Read ↗

Diagnostic clinical genome and exome sequencing.Semantic proximity Read ↗

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals testedSemantic proximity Read ↗

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis.Semantic proximity Read ↗

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.Semantic proximity Read ↗

Measuring coverage and accuracy of whole-exome sequencing in clinical contextSemantic proximity Read ↗

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.Semantic proximity Read ↗

Exome Sequencing and Clinical DiagnosisSemantic proximity Read ↗

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

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosisSemantic proximity Read ↗

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

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