书目名称 | Variant Calling |
副标题 | Methods and Protocol |
编辑 | Charlotte Ng,Salvatore Piscuoglio |
视频video | |
概述 | Includes cutting-edge methods and protocols.Provides step-by-step detail essential for reproducible results.Contains key notes and implementation advice from the experts |
丛书名称 | Methods in Molecular Biology |
图书封面 |  |
描述 | .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. . |
出版日期 | Book 2022 |
关键词 | downstream analyses; copy number variants; RNA-seq data; HLA typing; Nextflow |
版次 | 1 |
doi | https://doi.org/10.1007/978-1-0716-2293-3 |
isbn_softcover | 978-1-0716-2295-7 |
isbn_ebook | 978-1-0716-2293-3Series ISSN 1064-3745 Series E-ISSN 1940-6029 |
issn_series | 1064-3745 |
copyright | The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Busines |