(Q30417775)

21 August 2017

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing (English)

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autosomal dominant polycystic kidney disease

21 August 2017

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autosomal dominant polycystic kidney

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4

Olivier Elemento

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author name string

Adrian Y Tan

1

1 reference

21 August 2017

Alber Michaeel

2

1 reference

21 August 2017

Genyan Liu

3

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21 August 2017

Jon Blumenfeld

5

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21 August 2017

Stephanie Donahue

6

1 reference

21 August 2017

Tom Parker

7

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21 August 2017

Daniel Levine

8

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21 August 2017

Hanna Rennert

9

1 reference

21 August 2017

27 December 2013

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The Journal of Molecular Diagnostics

21 August 2017

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21 August 2017

16

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21 August 2017

2

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21 August 2017

216-228

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describes a project that uses

21 August 2017

massive parallel sequencing

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ACMG clinical laboratory standards for next-generation sequencing

inferred from title

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Predicting functional effect of human missense mutations using PolyPhen-2.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Steps to ensure accuracy in genotype and SNP calling from Illumina sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Imaging approaches to patients with polycystic kidney disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

A framework for variation discovery and genotyping using next-generation DNA sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Novel genomic techniques open new avenues in the analysis of monogenic disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

MutationTaster evaluates disease-causing potential of sequence alterations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Illumina sequencing library preparation for highly multiplexed target capture and sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Molecular diagnostics for autosomal dominant polycystic kidney disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Sequencing technologies - the next generation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Fast and accurate short read alignment with Burrows-Wheeler transform

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Method for improving sequence coverage uniformity of targeted genomic intervals amplified by LR-PCR using Illumina GA sequencing-by-synthesis technology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Autosomal dominant polycystic kidney disease: emerging concepts of pathogenesis and new treatments

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Pretransplant genetic testing of live kidney donors at risk for autosomal dominant polycystic kidney disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Predicting deleterious amino acid substitutions

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Primer3 on the WWW for general users and for biologist programmers

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937536

A complete mutation screen of the ADPKD genes by DHPLC

26 November 2018

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease

1 reference

12 December 2020

10.1016/J.JMOLDX.2013.10.005

Identifiers

DOI

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21 August 2017

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21 August 2017

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