ENGLISH

Variant Calling: Methods and Protocols

By Charlotte Ng; Salvatore Piscuoglio

Book information

Publisher
Springer Nature
Year
2022
ISBN
9781071622933, 9781071622926, 1071622935
Language
english
Format
EPUB
Filesize
25 MB (26639050 bytes)
Pages
352\0
Library
SoftArchive
Time added
2023-11-08 22:00:11

Description

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, alignment-free genotyping and SNP calling, variant detection in single-cell DNA sequencing data, variant annotation, and preanalytical quality control to ensure successful variant calling. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists step-by-step protocol to execute the algorithms, describes the input and output data, and includes tips on troubleshooting and known pitfalls. Authoritative and cutting-edge, Variant Calling: Methods and Protocols aims to be a foundation for future studies and to be a source of inspiration for new investigations in the field.

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