↓ Skip to main content

Copy Number Variants

Overview of attention for book
Cover of 'Copy Number Variants'

Table of Contents

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

Readers on

mendeley
32 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Chapter title
Identification of Copy Number Variants from SNP Arrays Using PennCNV
Chapter number 1
Book title
Copy Number Variants
Published in
Methods in molecular biology, January 2018
DOI 10.1007/978-1-4939-8666-8_1
Pubmed ID
Book ISBNs
978-1-4939-8665-1, 978-1-4939-8666-8
Authors

Li Fang, Kai Wang, Fang, Li, Wang, Kai

Abstract

High-resolution single-nucleotide polymorphism (SNP) genotyping arrays offer a sensitive and affordable method for genome-wide detection of copy number variants (CNVs). PennCNV is a hidden Markov model (HMM)-based CNV caller for SNP arrays, first released 10 years ago. A typical CNV calling procedure using PennCNV includes preparation of input files, CNV calling, filtering CNV calls, CNV annotation, and CNV visualization. Here we describe several protocols for CNV calling using PennCNV, together with descriptions on several recent improvements to the software tool.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 32 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 13 41%
Researcher 4 13%
Student > Master 2 6%
Student > Bachelor 2 6%
Other 1 3%
Other 3 9%
Unknown 7 22%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 14 44%
Medicine and Dentistry 3 9%
Nursing and Health Professions 2 6%
Neuroscience 2 6%
Computer Science 1 3%
Other 3 9%
Unknown 7 22%