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

Next generation sequencing and the future of genetic diagnosis.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Oct 2014

Lohmann Katja, Klein Christine

Abstract excerpt

The introduction of next generation sequencing (NGS) has led to an exponential increase of elucidated genetic causes in both extremely rare diseases and common but heterogeneous disorders. It can be applied to the whole or to selected parts of the genome (genome or exome sequencing, gene panels). NGS is not only useful in large extended families with linkage information, but may also be applied to detect de novo...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Association Studies
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genetic Variation

Share to Genomic variations and chromosomal abnormalities

Share to Genomics

Share to Genomics and Rare Diseases

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 25052068
DOI: 10.1007/s13311-014-0288-8
PMCID: PMC4391380

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Next generation sequencing and the future of genetic diagnosis.PMID 25052068Read ↗

Guidelines for diagnostic next-generation sequencingSemantic proximity Read ↗

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

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

Next generation sequencing--implications for clinical practiceSemantic proximity Read ↗

Next-generation sequencing demands next-generation phenotyping.Semantic proximity Read ↗

Next-generation sequencing: ready for the clinics?Semantic proximity Read ↗

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.Semantic proximity Read ↗

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

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

The Road from Next-Generation Sequencing to Personalized MedicineSemantic proximity Read ↗

The challenge for the next generation of medical geneticists.Semantic proximity Read ↗

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

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