Literature DB >> 33608040

ReSeq simulates realistic Illumina high-throughput sequencing data.

Stephan Schmeing1,2, Mark D Robinson3,4.   

Abstract

In high-throughput sequencing data, performance comparisons between computational tools are essential for making informed decisions at each step of a project. Simulations are a critical part of method comparisons, but for standard Illumina sequencing of genomic DNA, they are often oversimplified, which leads to optimistic results for most tools. ReSeq improves the authenticity of synthetic data by extracting and reproducing key components from real data. Major advancements are the inclusion of systematic errors, a fragment-based coverage model and sampling-matrix estimates based on two-dimensional margins. These improvements lead to more faithful performance evaluations. ReSeq is available at https://github.com/schmeing/ReSeq .

Entities:  

Keywords:  Genomic; High-throughput sequencing; Illumina; Simulation

Mesh:

Year:  2021        PMID: 33608040      PMCID: PMC7896392          DOI: 10.1186/s13059-021-02265-7

Source DB:  PubMed          Journal:  Genome Biol        ISSN: 1474-7596            Impact factor:   13.583


  55 in total

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2.  Snakemake--a scalable bioinformatics workflow engine.

Authors:  Johannes Köster; Sven Rahmann
Journal:  Bioinformatics       Date:  2012-08-20       Impact factor: 6.937

3.  Efficient de novo assembly of large genomes using compressed data structures.

Authors:  Jared T Simpson; Richard Durbin
Journal:  Genome Res       Date:  2011-12-07       Impact factor: 9.043

4.  Analysis of error profiles in deep next-generation sequencing data.

Authors:  Xiaotu Ma; Ying Shao; Liqing Tian; Diane A Flasch; Heather L Mulder; Michael N Edmonson; Yu Liu; Xiang Chen; Scott Newman; Joy Nakitandwe; Yongjin Li; Benshang Li; Shuhong Shen; Zhaoming Wang; Sheila Shurtleff; Leslie L Robison; Shawn Levy; John Easton; Jinghui Zhang
Journal:  Genome Biol       Date:  2019-03-14       Impact factor: 13.583

Review 5.  A comparison of tools for the simulation of genomic next-generation sequencing data.

Authors:  Merly Escalona; Sara Rocha; David Posada
Journal:  Nat Rev Genet       Date:  2016-06-20       Impact factor: 53.242

6.  A platform-independent method for detecting errors in metagenomic sequencing data: DRISEE.

Authors:  Kevin P Keegan; William L Trimble; Jared Wilkening; Andreas Wilke; Travis Harrison; Mark D'Souza; Folker Meyer
Journal:  PLoS Comput Biol       Date:  2012-06-07       Impact factor: 4.475

7.  Summarizing and correcting the GC content bias in high-throughput sequencing.

Authors:  Yuval Benjamini; Terence P Speed
Journal:  Nucleic Acids Res       Date:  2012-02-09       Impact factor: 16.971

8.  A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.

Authors:  Michael A Eberle; Epameinondas Fritzilas; Peter Krusche; Morten Källberg; Benjamin L Moore; Mitchell A Bekritsky; Zamin Iqbal; Han-Yu Chuang; Sean J Humphray; Aaron L Halpern; Semyon Kruglyak; Elliott H Margulies; Gil McVean; David R Bentley
Journal:  Genome Res       Date:  2016-11-30       Impact factor: 9.043

9.  Long fragments achieve lower base quality in Illumina paired-end sequencing.

Authors:  Ge Tan; Lennart Opitz; Ralph Schlapbach; Hubert Rehrauer
Journal:  Sci Rep       Date:  2019-02-27       Impact factor: 4.379

10.  Read trimming is not required for mapping and quantification of RNA-seq reads at the gene level.

Authors:  Yang Liao; Wei Shi
Journal:  NAR Genom Bioinform       Date:  2020-09-03
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  4 in total

1.  ReSeq simulates realistic Illumina high-throughput sequencing data.

Authors:  Stephan Schmeing; Mark D Robinson
Journal:  Genome Biol       Date:  2021-02-19       Impact factor: 13.583

2.  Benchmarking pipelines for subclonal deconvolution of bulk tumour sequencing data.

Authors:  Georgette Tanner; David R Westhead; Alastair Droop; Lucy F Stead
Journal:  Nat Commun       Date:  2021-11-04       Impact factor: 14.919

3.  Accurate prediction of metagenome-assembled genome completeness by MAGISTA, a random forest model built on alignment-free intra-bin statistics.

Authors:  Gleb Goussarov; Jürgen Claesen; Mohamed Mysara; Ilse Cleenwerck; Natalie Leys; Peter Vandamme; Rob Van Houdt
Journal:  Environ Microbiome       Date:  2022-03-05

Review 4.  From molecules to genomic variations: Accelerating genome analysis via intelligent algorithms and architectures.

Authors:  Mohammed Alser; Joel Lindegger; Can Firtina; Nour Almadhoun; Haiyu Mao; Gagandeep Singh; Juan Gomez-Luna; Onur Mutlu
Journal:  Comput Struct Biotechnol J       Date:  2022-08-18       Impact factor: 6.155

  4 in total

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