Variant Calling [E-Book] : Methods and Protocols / edited by Charlotte Ng, Salvatore Piscuoglio.
This volume provides practical guidance on a variety of techniques and steps to ensure successful variant calling. Chapters detail methods for variant calling from single-nucleotide variants to structural variants, variant calling in specialized data types such as RNA-seq and UMI-tagged sequencing,...
Saved in:
Full text |
|
Personal Name(s): | Ng, Charlotte, editor |
Piscuoglio, Salvatore, editor | |
Edition: |
1st edition 2022. |
Imprint: |
New York, NY :
Humana Press,
2022
|
Physical Description: |
XI, 354 pages 57 illustrations, 44 illustrations in color (online resource) |
Note: |
englisch |
ISBN: |
9781071622933 |
DOI: |
10.1007/978-1-0716-2293-3 |
Series Title: |
/* Depending on the record driver, $field may either be an array with
"name" and "number" keys or a flat string containing only the series
name. We should account for both cases to maximize compatibility. */?>
Methods in Molecular Biology ;
2493 |
Subject (LOC): |
- Data Processing and Germline Variant Calling with the Sentieon pipeline
- MuSE: A Novel Approach to Mutation Calling with Sample-Specific Error Modeling
- Octopus: Genotyping and Haplotyping in Diverse Experimental Designs
- Accurate Ensemble Prediction of Somatic Mutations with SMuRF2
- Detecting Medium and Large Insertions and Deletions with Transindel
- DECoN: A detection and visualisation tool for exonic copy number variants
- FACETS: Fraction and Allele-Specific Copy Number Estimates from Tumor Sequencing
- Meerkat: An Algorithm to Reliably Identify Structural Variations and Predict Their Forming Mechanisms
- Structural Variant Detection from Long-Read Sequencing Data with cuteSV
- Identifying Somatic Mitochondrial DNA Mutations
- Identification, Quantification, and Testing of Alternative Splicing Events from RNA-Seq data using SplAdder
- PipeIT: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data
- Variant calling from RNA-seq data using the GATK joint genotyping workflow
- UMI-Varcal: a low-frequency variant caller for UMI-tagged paired-end sequencing data
- Alignment-free genotyping of known variations with MALVA
- Kmer2SNP: Reference-free heterozygous SNP calling using k-mer frequency distributions
- Somatic Single Nucleotide Variant Calling from Single Cell DNA sequencing data using SCAN-SNV
- Copy Number Variation Detection by Single-Cell DNA sequencing with SCOPE
- Variant Annotation and Functional Prediction: SnpEff
- Annotating Cancer-Related Variants At Protein-Protein Interface with Structure-PPi
- Preanalytical Variables and Sample Quality Control For Clinical Variant Analysis. .