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

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

The Journal of molecular diagnostics : JMD - 1 Mar 2014

Tan Adrian Y, Michaeel Alber, Liu Genyan, Elemento Olivier, Blumenfeld Jon, Donahue Stephanie, Parker Tom, Levine Daniel, Rennert Hanna

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2. However, genetic analysis is complicated by six PKD1 pseudogenes, large gene sizes, and allelic heterogeneity. We developed a new clinical assay for PKD gene analysis using paired-end next-generation sequencing (NGS) by multiplexing individually bar-coded long-range PCR libraries and analyzing them in one Illumina MiSeq...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Gene Order

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Polycystic Kidney, Autosomal Dominant

Share to Registries

Share to Sensitivity and Specificity

Share to TRPP Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 24374109
DOI: 10.1016/j.jmoldx.2013.10.005
PMCID: PMC3937536

Genes

PKD1
PKD2

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

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.PMID 24374109Read ↗

Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Semantic proximity Read ↗

Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney DiseaseSemantic proximity Read ↗

Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.Semantic proximity Read ↗

Molecular diagnosis of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.Semantic proximity Read ↗

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.Semantic proximity Read ↗

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.Semantic proximity Read ↗

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).Semantic proximity Read ↗

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