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

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.

Journal of biomolecular techniques : JBT - 1 Apr 2015

Crowgey Erin L, Stabley Deborah L, Chen Chuming, Huang Hongzhan, Robbins Katherine M, Polson Shawn W, Sol-Church Katia, Wu Cathy H

Abstract excerpt

Next-generation sequencing (NGS) technologies provide the potential for developing high-throughput and low-cost platforms for clinical diagnostics. A limiting factor to clinical applications of genomic NGS is downstream bioinformatics analysis for data interpretation. We have developed an integrated approach for end-to-end clinical NGS data analysis from variant detection to functional profiling. Robust...

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Abnormalities
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Ontology

Share to Genetic Association Studies

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to INDEL Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 25649353
DOI: 10.7171/jbt.15-2601-002
PMCID: PMC4310222

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

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.PMID 25649353Read ↗

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 ↗

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

A survey of tools for variant analysis of next-generation genome sequencing data.Semantic proximity Read ↗

UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV.Semantic proximity Read ↗

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.Semantic proximity Read ↗

Validation and assessment of variant calling pipelines for next-generation sequencing.Semantic proximity Read ↗

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.Semantic proximity Read ↗

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinicSemantic proximity Read ↗

Genomize-SEQ: An NGS data analysis platform for genomic variant classification and prioritizationSemantic proximity Read ↗

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

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

<i>seqr</i> : a web-based analysis and collaboration tool for rare disease genomicsSemantic proximity Read ↗

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