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Variant Calling

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Cover of 'Variant Calling'

Table of Contents

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    Book Overview
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    Chapter 1 Data Processing and Germline Variant Calling with the Sentieon Pipeline
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    Chapter 2 MuSE: A Novel Approach to Mutation Calling with Sample-Specific Error Modeling
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    Chapter 3 Octopus: Genotyping and Haplotyping in Diverse Experimental Designs
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    Chapter 4 Accurate Ensemble Prediction of Somatic Mutations with SMuRF2.
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    Chapter 5 Detecting Medium and Large Insertions and Deletions with transIndel
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    Chapter 6 DECoN: A Detection and Visualization Tool for Exonic Copy Number Variants
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    Chapter 7 FACETS: Fraction and Allele-Specific Copy Number Estimates from Tumor Sequencing
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    Chapter 8 Meerkat: An Algorithm to Reliably Identify Structural Variations and Predict Their Forming Mechanisms
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    Chapter 9 Structural Variant Detection from Long-Read Sequencing Data with cuteSV
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    Chapter 10 Identifying Somatic Mitochondrial DNA Mutations
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    Chapter 11 Identification, Quantification, and Testing of Alternative Splicing Events from RNA-Seq Data Using SplAdder
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    Chapter 12 PipeIT2: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data
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    Chapter 13 Variant Calling from RNA-seq Data Using the GATK Joint Genotyping Workflow
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    Chapter 14 UMI-Varcal: A Low-Frequency Variant Caller for UMI-Tagged Paired-End Sequencing Data
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    Chapter 15 Alignment-Free Genotyping of Known Variations with MALVA
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    Chapter 16 Kmer2SNP: Reference-Free Heterozygous SNP Calling Using k-mer Frequency Distributions
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    Chapter 17 Somatic Single-Nucleotide Variant Calling from Single-Cell DNA Sequencing Data Using SCAN-SNV.
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    Chapter 18 Copy Number Variation Detection by Single-Cell DNA Sequencing with SCOPE
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    Chapter 19 Variant Annotation and Functional Prediction: SnpEff
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    Chapter 20 Annotating Cancer-Related Variants at Protein–Protein Interface with Structure-PPi
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    Chapter 21 Preanalytical Variables and Sample Quality Control for Clinical Variant Analysis
Attention for Chapter 18: Copy Number Variation Detection by Single-Cell DNA Sequencing with SCOPE
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