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Copy Number Variants

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Cover of 'Copy Number Variants'

Table of Contents

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    Book Overview
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    Chapter 1 Identification of Copy Number Variants from SNP Arrays Using PennCNV
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    Chapter 2 Using SAAS-CNV to Detect and Characterize Somatic Copy Number Alterations in Cancer Genomes from Next Generation Sequencing and SNP Array Data
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    Chapter 3 Statistical Detection of Genome Differences Based on CNV Segments
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    Chapter 4 Whole-Genome Shotgun Sequence CNV Detection Using Read Depth
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    Chapter 5 Read Depth Analysis to Identify CNV in Bacteria Using CNOGpro
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    Chapter 6 Using HaMMLET for Bayesian Segmentation of WGS Read-Depth Data
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    Chapter 7 Split-Read Indel and Structural Variant Calling Using PINDEL
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    Chapter 8 Detecting Small Inversions Using SRinversion
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    Chapter 9 Detection of CNVs in NGS Data Using VS-CNV
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    Chapter 10 Structural Variant Breakpoint Detection with novoBreak
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    Chapter 11 Use of RAPTR-SV to Identify SVs from Read Pairing and Split Read Signatures
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    Chapter 12 Versatile Identification of Copy Number Variants with Canvas
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    Chapter 13 A Randomized Iterative Approach for SV Discovery with SVelter
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    Chapter 14 Analysis of Population-Genetic Properties of Copy Number Variations
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    Chapter 15 Validation of Genomic Structural Variants Through Long Sequencing Technologies
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    Chapter 16 Structural Variation Detection and Analysis Using Bionano Optical Mapping
Attention for Chapter 3: Statistical Detection of Genome Differences Based on CNV Segments
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Chapter title
Statistical Detection of Genome Differences Based on CNV Segments
Chapter number 3
Book title
Copy Number Variants
Published in
Methods in molecular biology, January 2018
DOI 10.1007/978-1-4939-8666-8_3
Pubmed ID
Book ISBNs
978-1-4939-8665-1, 978-1-4939-8666-8
Authors

Yang Zhou, Derek M. Bickhart, George E. Liu, Zhou, Yang, Bickhart, Derek M., Liu, George E.

Abstract

Population analysis using copy number variation (CNV) is far more complex than analysis using SNPs because of the diverse copy number and inconsistent boundaries of CNVs in different individuals that causes changes in frequency. Multiple studies have reported CNV regions associated with diseases or body traits based on a CNV segmentation strategy that condenses calls from multiple different sources into a genotype state. Here, we provide a guideline of how to generate CNV segments from known CNV results, and how to detect genome differences based on CNV segments.

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Mendeley readers

The data shown below were compiled from readership statistics for 4 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 4 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 2 50%
Unknown 2 50%
Readers by discipline Count As %
Computer Science 1 25%
Agricultural and Biological Sciences 1 25%
Unknown 2 50%