Titlebook: Copy Number Variants; Methods and Protocol Derek M. Bickhart Book 2018 Springer Science+Business Media, LLC, part of Springer Nature 2018 P

伟大

ABASH

https://doi.org/10.1007/978-1-4302-0262-2sts, resources, and analysis time. This chapter provides an overview of the various approaches to CNV detection via NGS data, and examines VS-CNV, a commercial tool developed by Golden Helix, which provides robust CNV calling capabilities for both gene panel and exome data.

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outer-ear

GEM

Read Depth Analysis to Identify CNV in Bacteria Using CNOGpro,e resultant read depth at each position in the genome. We here provide instructions on how to analyze this read depth signal with the R package CNOGpro, allowing for estimation of copy numbers with uncertainty for each feature in a genome.

Indurate

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Detection of CNVs in NGS Data Using VS-CNV,sts, resources, and analysis time. This chapter provides an overview of the various approaches to CNV detection via NGS data, and examines VS-CNV, a commercial tool developed by Golden Helix, which provides robust CNV calling capabilities for both gene panel and exome data.

弄污

micronized

Identification of Copy Number Variants from SNP Arrays Using PennCNV,e 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.

exceptional

Statistical Detection of Genome Differences Based on CNV Segments,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.