Review of alignment and SNP calling algorithms for next-generation sequencing data

被引:0
|
作者
M. Mielczarek
J. Szyda
机构
[1] Wroclaw University of Environmental and Life Sciences,Biostatistics Group, Department of Genetics
来源
关键词
Alignment; Genotype calling; NGS; SNP calling; Review; Software;
D O I
暂无
中图分类号
学科分类号
摘要
Application of the massive parallel sequencing technology has become one of the most important issues in life sciences. Therefore, it was crucial to develop bioinformatics tools for next-generation sequencing (NGS) data processing. Currently, two of the most significant tasks include alignment to a reference genome and detection of single nucleotide polymorphisms (SNPs). In many types of genomic analyses, great numbers of reads need to be mapped to the reference genome; therefore, selection of the aligner is an essential step in NGS pipelines. Two main algorithms—suffix tries and hash tables—have been introduced for this purpose. Suffix array-based aligners are memory-efficient and work faster than hash-based aligners, but they are less accurate. In contrast, hash table algorithms tend to be slower, but more sensitive. SNP and genotype callers may also be divided into two main different approaches: heuristic and probabilistic methods. A variety of software has been subsequently developed over the past several years. In this paper, we briefly review the current development of NGS data processing algorithms and present the available software.
引用
收藏
页码:71 / 79
页数:8
相关论文
共 50 条
  • [21] Base-calling for next-generation sequencing platforms
    Ledergerber, Christian
    Dessimoz, Christophe
    [J]. BRIEFINGS IN BIOINFORMATICS, 2011, 12 (05) : 489 - 497
  • [22] NGSNGS: next-generation simulator for next-generation sequencing data
    Henriksen, Rasmus Amund
    Zhao, Lei
    Korneliussen, Thorfinn Sand
    [J]. BIOINFORMATICS, 2023, 39 (01)
  • [23] Empirical Bayes single nucleotide variant-calling for next-generation sequencing data
    Karimnezhad, Ali
    Perkins, Theodore J.
    [J]. SCIENTIFIC REPORTS, 2024, 14 (01)
  • [24] Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data
    Sarah Sandmann
    Aniek O. de Graaf
    Mohsen Karimi
    Bert A. van der Reijden
    Eva Hellström-Lindberg
    Joop H. Jansen
    Martin Dugas
    [J]. Scientific Reports, 7
  • [25] Empirical Bayes single nucleotide variant-calling for next-generation sequencing data
    Ali Karimnezhad
    Theodore J. Perkins
    [J]. Scientific Reports, 14
  • [26] Validation and assessment of variant calling pipelines for next-generation sequencing
    Pirooznia, Mehdi
    Kramer, Melissa
    Parla, Jennifer
    Goes, Fernando S.
    Potash, James B.
    McCombie, W. Richard
    Zandi, Peter P.
    [J]. HUMAN GENOMICS, 2014, 8 : 14
  • [27] Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data
    Sandmann, Sarah
    de Graaf, Aniek O.
    Karimi, Mohsen
    van der Reijden, Bert A.
    Hellstrom-Lindberg, Eva
    Jansen, Joop H.
    Dugas, Martin
    [J]. SCIENTIFIC REPORTS, 2017, 7
  • [28] Genotype calling from next-generation sequencing data using haplotype information of reads
    Zhi, Degui
    Wu, Jihua
    Liu, Nianjun
    Zhang, Kui
    [J]. BIOINFORMATICS, 2012, 28 (07) : 938 - 946
  • [29] Validation and assessment of variant calling pipelines for next-generation sequencing
    Mehdi Pirooznia
    Melissa Kramer
    Jennifer Parla
    Fernando S Goes
    James B Potash
    W Richard McCombie
    Peter P Zandi
    [J]. Human Genomics, 8
  • [30] BASE CALLING ERROR RATES IN NEXT-GENERATION DNA SEQUENCING
    Shamaiah, Manohar
    Vikalo, Haris
    [J]. 2012 IEEE STATISTICAL SIGNAL PROCESSING WORKSHOP (SSP), 2012, : 692 - 695