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[Next Generation Sequencing and ADPKD].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2015
Autosomal Dominant Polycistic Kidney Disease (ADPKD) is the most common inherited genetic disorder in the word, caused by mutations in PKD1 gene in 85% of cases and PKD 2 gene in the remaining 15%. Although diagnosis is usually based on ultrasound, MRI and CT scans, in some cases genetic testing is necessary, for example, in patients with atypical ...
Restivo, Arianna   +6 more
openaire   +4 more sources

Next-Generation Sequencing

2017
This chapter summarizes the frequency and role of point mutations and small insertions or deletions (indels) in primary prostate cancer (PCa). Compared to other malignancies, PCa is rather characterized by chromosomal aberrations than by gene mutations.
Anne Offermann, Sven Perner
openaire   +1 more source

Next Generation Sequencing

Medizinische Genetik, 2014
T.M. Hambuch, J. Mayfield
  +6 more sources

Next-Generation Sequencing

Lebensmittelchemie, 2022
Rajeev, Sneha   +3 more
  +4 more sources

Going viral: next-generation sequencing applied to phage populations in the human gut

Nature Reviews Microbiology, 2012
Alejandro Reyes   +2 more
exaly  

Translating cancer genomes and transcriptomes for precision oncology

Ca-A Cancer Journal for Clinicians, 2016
Sameek Roychowdhury, Arul M Chinnaiyan
exaly  

Genotype and SNP calling from next-generation sequencing data

Nature Reviews Genetics, 2011
Rasmus Nielsen   +2 more
exaly  

Next-Generation Sequencing

Internal Medicine News, 2012
openaire   +2 more sources

Genome-wide genetic marker discovery and genotyping using next-generation sequencing

Nature Reviews Genetics, 2011
Jason Q Boone   +2 more
exaly  

Clinical Metagenomic Next-Generation Sequencing for Pathogen Detection

Annual Review of Pathology: Mechanisms of Disease, 2019
Wei Gu, Steve Miller
exaly  

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