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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 7: Split-Read Indel and Structural Variant Calling Using PINDEL
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Chapter title
Split-Read Indel and Structural Variant Calling Using PINDEL
Chapter number 7
Book title
Copy Number Variants
Published in
Methods in molecular biology, January 2018
DOI 10.1007/978-1-4939-8666-8_7
Pubmed ID
Book ISBNs
978-1-4939-8665-1, 978-1-4939-8666-8
Authors

Kai Ye, Li Guo, Xiaofei Yang, Eric-Wubbo Lamijer, Keiran Raine, Zemin Ning, Ye, Kai, Guo, Li, Yang, Xiaofei, Lamijer, Eric-Wubbo, Raine, Keiran, Ning, Zemin

Abstract

Genetic variations are important evolutionary forces in all forms of life in nature. Accurate and efficient detection of various forms of genetic variants is crucial for understanding cell function, evolution and diseases in living organisms. In this chapter, we describe a detailed protocol that uses Pindel, a split-read algorithm, to discover indels and structural variants in a given genome, from Illumina short-read sequencing data produced from biological samples.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 35%
Researcher 2 12%
Other 1 6%
Student > Bachelor 1 6%
Professor 1 6%
Other 3 18%
Unknown 3 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 10 59%
Computer Science 1 6%
Agricultural and Biological Sciences 1 6%
Immunology and Microbiology 1 6%
Chemistry 1 6%
Other 0 0%
Unknown 3 18%