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

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.

Gene - 1 Mar 2013

Qi Xiao-Ping, Du Zhen-Fang, Ma Ju-Ming, Chen Xiao-Ling, Zhang Qing, Fei Jun, Wei Xiao-Ming, Chen Dong, Ke Hai-Ping, Liu Xuan-Zhu, Li Feng, Chen Zhen-Guang, Su Zheng, Jin Hang-Yang, Liu Wen-Ting, Zhao Yan, Jiang Hu-Ling, Lan Zhang-Zhang, Li Peng-Fei, Fang Ming-Yan, Dong Wei, Zhang Xian-Ning

Abstract excerpt

Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, and duplication sequences of PKD1. Recently, targeted resequencing by pooling long-range polymerase chain reaction (LR-PCR) amplicons has been used in the identification of mutations in ADPKD. Despite its high sensitivity, specificity and...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Pedigree

Share to Polycystic Kidney, Autosomal Dominant

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Share to TRPP Cation Channels

Source

Identifiers

PMID: 23266634
DOI: 10.1016/j.gene.2012.12.060

Genes

PKD1
PKD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.PMID 23266634Read ↗

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

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

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

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney DiseaseSemantic proximity Read ↗

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

Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

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

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

Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis in an assisted reproductive centerSemantic proximity Read ↗

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.Semantic proximity Read ↗

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.Semantic proximity Read ↗

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