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

Clinical analysis of genome next-generation sequencing data using the Omicia platform.

Expert review of molecular diagnostics - 1 Jul 2013

Coonrod Emily M, Margraf Rebecca L, Russell Archie, Voelkerding Karl V, Reese Martin G

Abstract excerpt

AIMS: Next-generation sequencing is being implemented in the clinical laboratory environment for the purposes of candidate causal variant discovery in patients affected with a variety of genetic disorders. The successful implementation of this technology for diagnosing genetic disorders requires a rapid, user-friendly method to annotate variants and generate short lists of clinically relevant variants of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to High-Throughput Nucleotide Sequencing

Share to Human Genome Project

Share to Pathology, Molecular

Share to Polymorphism, Single Nucleotide

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 23895124
DOI: 10.1586/14737159.2013.811907
PMCID: PMC3828661

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical analysis of genome next-generation sequencing data using the Omicia platform.PMID 23895124Read ↗

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Semantic proximity Read ↗

Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Semantic proximity Read ↗

Databases of genomic variation and phenotypes: existing resources and future needs.Semantic proximity Read ↗

Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.Semantic proximity Read ↗

Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.Semantic proximity Read ↗

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP GuidelinesSemantic proximity Read ↗

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.Semantic proximity Read ↗

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.Semantic proximity Read ↗

WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.Semantic proximity Read ↗

MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysisSemantic proximity Read ↗

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.Semantic proximity Read ↗

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.Semantic proximity Read ↗

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