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-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

BMC medical genetics - 5 Oct 2015

Luzón-Toro Berta, Espino-Paisán Laura, Fernández Raquel Ma, Martín-Sánchez Marta, Antiñolo Guillermo, Borrego Salud

Abstract excerpt

BACKGROUND: The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR). The purpose of this study was the design of a panel of HSCR associated genes as a rapid and...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Library

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Hirschsprung Disease

Share to Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 26437850
DOI: 10.1186/s12881-015-0235-5
PMCID: PMC4595130

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

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.PMID 26437850Read ↗

Targeted Next-Generation Sequencing in Rare Diseases.Semantic proximity Read ↗

Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling.Semantic proximity Read ↗

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.Semantic proximity Read ↗

Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.Semantic proximity Read ↗

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.Semantic proximity Read ↗

The Role of <i>de novo</i> and Ultra-Rare Variants in Hirschsprung Disease (HSCR): Extended Gene Discovery for Risk Profiling of PatientsSemantic proximity Read ↗

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.Semantic proximity Read ↗

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Semantic proximity Read ↗

Molecular genetics of Hirschsprung's disease.Semantic proximity Read ↗

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical ApplicationsSemantic proximity Read ↗

A targeted gene capture next-generation sequencing panel for genetic screening of newborns.Semantic proximity Read ↗

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.Semantic proximity Read ↗

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