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

Whole-genome sequencing and the clinician: a tale of two cities.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2014

Foley A Reghan, Pitceathly Robert D S, He Jie, Kim Jihee, Pearson Nathaniel M, Muntoni Francesco, Hanna Michael G

Abstract excerpt

BACKGROUND: Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing. Access to genomic technology and resultant data is no longer limited to clinicians, geneticists and bioinformaticians, however; ongoing commercialisation gives patients themselves ever greater access to sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type VI
Share to Contracture

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetics, Medical

Share to Genome, Human

Share to Magnetic Resonance Imaging

Share to Muscular Dystrophies

Share to Neuromuscular Diseases

Share to Precision Medicine

Source

Open in PubMed Open full text

Identifiers

PMID: 24706943
DOI: 10.1136/jnnp-2013-306264
PMCID: PMC4145416

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Whole-genome sequencing and the clinician: a tale of two cities.PMID 24706943Read ↗

Neuromuscular disease genetics in under-represented populations: increasing data diversitySemantic proximity Read ↗

Improving genetic diagnosis in Mendelian disease with transcriptome sequencingSemantic proximity Read ↗

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Semantic proximity Read ↗

Clinical sequencing: From raw data to diagnosis with lifetime value.Semantic proximity Read ↗

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.Semantic proximity Read ↗

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Semantic proximity Read ↗

Next-generation sequencing in neuromuscular diseasesSemantic proximity Read ↗

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessSemantic proximity Read ↗

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.Semantic proximity Read ↗

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneSemantic proximity Read ↗

Next-generation sequencing technologies: breaking the sound barrier of human genetics.Semantic proximity Read ↗

Next generation sequencing for molecular diagnosis of neuromuscular diseasesSemantic proximity Read ↗

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