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The clinical implementation of copy number detection in the age of next-generation sequencing

Expert Review of Molecular Diagnostics

Sep 18, 2018

Jayne Y Hehir-KwaPatrick Kemmeren

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PubMed

Abstract

The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined. Clinical exome sequencing data is now a reality for many diagnostic ...read more

Mentioned in this Paper

Research
Gene Dosage
DNA Copy Number Changes
Genome
Oncologic
Clinical Decision-Making
Parallel Study
Nucleic Acid Sequencing
Choroidal Neovascularization
Laboratory
8
24
Paper Details
References
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  • Citations1
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  • References113
  • Citations1
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The clinical implementation of copy number detection in the age of next-generation sequencing

Expert Review of Molecular Diagnostics

Sep 18, 2018

Jayne Y Hehir-KwaPatrick Kemmeren

PMID: 30221560

DOI: 10.1080/14737159.2018.1523723

Abstract

The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined. Clinical exome sequencing data is now a reality for many diagnostic ...read more

Mentioned in this Paper

Research
Gene Dosage
DNA Copy Number Changes
Genome
Oncologic
Clinical Decision-Making
Parallel Study
Nucleic Acid Sequencing
Choroidal Neovascularization
Laboratory
8
24

Feeds With Similar Papers

Copy Number Variation

Copy number variation refers to alterations in the number of gene copies or DNA sequences. It can be a duplication, amplification, or a deletion event. Here is the latest research.

Comparative Sequencing

Inter/Intra-Species: Comparative Sequencing describes the sequencing techniques that compare between and within species genomes. Discover the latest research on comparative sequencing of inter/intra-species here.

Related Papers

Frontiers in Genetics

Whole-genome CNV analysis: advances in computational approaches

Frontiers in GeneticsApril 29, 2015
Mehdi PiroozniaPeter P Zandi
Paper Details
References
  • References113
  • Citations1
12345...
  • References113
  • Citations1
1

Download from

Publisher
PubMed
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