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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

PLoS Computational Biology

Apr 23, 2016

Eric TalevichBoris C Bastian

Abstract

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. Ho...read more

Mentioned in this Paper

Computer Software
Genome-Wide Association Study
Fluorescent in Situ Hybridization
Size
Repetitive Region
Re-evaluation
DNA Copy Number Changes
Exons
Genome
Genes
28
428
Paper Details
References
  • References39
  • Citations72
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  • References39
  • Citations72
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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

PLoS Computational Biology

Apr 23, 2016

Eric TalevichBoris C Bastian

PMID: 27100738

DOI: 10.1371/journal.pcbi.1004873

Abstract

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. Ho...read more

Mentioned in this Paper

Computer Software
Genome-Wide Association Study
Fluorescent in Situ Hybridization
Size
Repetitive Region
Re-evaluation
DNA Copy Number Changes
Exons
Genome
Genes
28
428

Similar Papers Found In These Feeds

Precision Oncology

Precision oncology is a new approach to cancer treatment, which utilizes the molecular profiling of each tumor to develop and tailor treatment strategies to each patient. The use of these biomarkers from tumors will help to predict those who will respond to specific treatments. Here is the latest research on precision oncology.

Structural Biology: Biophysics

Structural Biology: Biophysics describes the study of structural biology using various biophysical techiniques such as imaging, computational modeling, etc. Discover the latest research on structrual biology here.

Related Papers

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CopywriteR: DNA copy number detection from off-target sequence data

Genome BiologyApril 19, 2015
Thomas KuilmanOscar Krijgsman
Journal of Clinical Bioinformatics

Multiple samples aCGH analysis for rare CNVs detection

Journal of Clinical BioinformaticsJune 14, 2013
Maciej SykulskiAnna Gambin
Paper Details
References
  • References39
  • Citations72
1234
  • References39
  • Citations72
12345...
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