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

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.

The Journal of clinical investigation - 1 Apr 2022

Schuler Bryce A, Nelson Erica T, Koziura Mary, Cogan Joy D, Hamid Rizwan, Phillips John A

Abstract excerpt

Rare genetic disorders, when considered together, are relatively common. Despite advancements in genetics and genomics technologies as well as increased understanding of genomic function and dysfunction, many genetic diseases continue to be difficult to diagnose. The goal of this Review is to increase the familiarity of genetic testing strategies for non-genetics providers. As genetic testing is increasingly used...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Testing
Share to Genomics
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35362483
DOI: 10.1172/JCI154942
PMCID: PMC8970663

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.PMID 35362483Read ↗

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

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

Next-Generation Sequencing to Diagnose Suspected Genetic DisordersSemantic proximity Read ↗

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.Semantic proximity Read ↗

Next-Generation Sequencing to Diagnose Suspected Genetic DisordersSemantic proximity Read ↗

Sequencing-based diagnostics for pediatric genetic diseases: progress and potentialSemantic proximity Read ↗

What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?Semantic proximity Read ↗

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.Semantic proximity Read ↗

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

Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseasesSemantic proximity Read ↗

Next generation sequencing and the future of genetic diagnosis.Semantic proximity Read ↗

Guidelines for diagnostic next-generation sequencingSemantic proximity Read ↗

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