Literature DB >> 22124482

Repetitive DNA and next-generation sequencing: computational challenges and solutions.

Todd J Treangen1, Steven L Salzberg.   

Abstract

Repetitive DNA sequences are abundant in a broad range of species, from bacteria to mammals, and they cover nearly half of the human genome. Repeats have always presented technical challenges for sequence alignment and assembly programs. Next-generation sequencing projects, with their short read lengths and high data volumes, have made these challenges more difficult. From a computational perspective, repeats create ambiguities in alignment and assembly, which, in turn, can produce biases and errors when interpreting results. Simply ignoring repeats is not an option, as this creates problems of its own and may mean that important biological phenomena are missed. We discuss the computational problems surrounding repeats and describe strategies used by current bioinformatics systems to solve them.

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Year:  2011        PMID: 22124482      PMCID: PMC3324860          DOI: 10.1038/nrg3117

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  77 in total

1.  Statistical inferences for isoform expression in RNA-Seq.

Authors:  Hui Jiang; Wing Hung Wong
Journal:  Bioinformatics       Date:  2009-02-25       Impact factor: 6.937

2.  Mapping short DNA sequencing reads and calling variants using mapping quality scores.

Authors:  Heng Li; Jue Ruan; Richard Durbin
Journal:  Genome Res       Date:  2008-08-19       Impact factor: 9.043

3.  Distinct DNA methylation patterns characterize differentiated human embryonic stem cells and developing human fetal liver.

Authors:  Alayne L Brunner; David S Johnson; Si Wan Kim; Anton Valouev; Timothy E Reddy; Norma F Neff; Elizabeth Anton; Catherine Medina; Loan Nguyen; Eric Chiao; Chuba B Oyolu; Gary P Schroth; Devin M Absher; Julie C Baker; Richard M Myers
Journal:  Genome Res       Date:  2009-03-09       Impact factor: 9.043

4.  Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history.

Authors:  Philip M Kim; Hugo Y K Lam; Alexander E Urban; Jan O Korbel; Jason Affourtit; Fabian Grubert; Xueying Chen; Sherman Weissman; Michael Snyder; Mark B Gerstein
Journal:  Genome Res       Date:  2008-10-08       Impact factor: 9.043

5.  Stem cell transcriptome profiling via massive-scale mRNA sequencing.

Authors:  Nicole Cloonan; Alistair R R Forrest; Gabriel Kolle; Brooke B A Gardiner; Geoffrey J Faulkner; Mellissa K Brown; Darrin F Taylor; Anita L Steptoe; Shivangi Wani; Graeme Bethel; Alan J Robertson; Andrew C Perkins; Stephen J Bruce; Clarence C Lee; Swati S Ranade; Heather E Peckham; Jonathan M Manning; Kevin J McKernan; Sean M Grimmond
Journal:  Nat Methods       Date:  2008-05-30       Impact factor: 28.547

6.  Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.

Authors:  Ben Langmead; Cole Trapnell; Mihai Pop; Steven L Salzberg
Journal:  Genome Biol       Date:  2009-03-04       Impact factor: 13.583

7.  Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation.

Authors:  Cole Trapnell; Brian A Williams; Geo Pertea; Ali Mortazavi; Gordon Kwan; Marijke J van Baren; Steven L Salzberg; Barbara J Wold; Lior Pachter
Journal:  Nat Biotechnol       Date:  2010-05-02       Impact factor: 54.908

8.  Fast and accurate long-read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2010-01-15       Impact factor: 6.937

9.  TopHat: discovering splice junctions with RNA-Seq.

Authors:  Cole Trapnell; Lior Pachter; Steven L Salzberg
Journal:  Bioinformatics       Date:  2009-03-16       Impact factor: 6.937

10.  Aggressive assembly of pyrosequencing reads with mates.

Authors:  Jason R Miller; Arthur L Delcher; Sergey Koren; Eli Venter; Brian P Walenz; Anushka Brownley; Justin Johnson; Kelvin Li; Clark Mobarry; Granger Sutton
Journal:  Bioinformatics       Date:  2008-10-24       Impact factor: 6.937

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  617 in total

Review 1.  A beginner's guide to eukaryotic genome annotation.

Authors:  Mark Yandell; Daniel Ence
Journal:  Nat Rev Genet       Date:  2012-04-18       Impact factor: 53.242

2.  What's in a genome? The C-value enigma and the evolution of eukaryotic genome content.

Authors:  Tyler A Elliott; T Ryan Gregory
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2015-09-26       Impact factor: 6.237

3.  Assessment of human diploid genome assembly with 10x Linked-Reads data.

Authors:  Lu Zhang; Xin Zhou; Ziming Weng; Arend Sidow
Journal:  Gigascience       Date:  2019-11-01       Impact factor: 6.524

4.  Phosphorylation of ORF1p is required for L1 retrotransposition.

Authors:  Pamela R Cook; Charles E Jones; Anthony V Furano
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-23       Impact factor: 11.205

Review 5.  Detecting Somatic Mutations in Normal Cells.

Authors:  Yanmei Dou; Heather D Gold; Lovelace J Luquette; Peter J Park
Journal:  Trends Genet       Date:  2018-05-03       Impact factor: 11.639

6.  TAREAN: a computational tool for identification and characterization of satellite DNA from unassembled short reads.

Authors:  Petr Novák; Laura Ávila Robledillo; Andrea Koblížková; Iva Vrbová; Pavel Neumann; Jirí Macas
Journal:  Nucleic Acids Res       Date:  2017-07-07       Impact factor: 16.971

Review 7.  New pathologic mechanisms in nucleotide repeat expansion disorders.

Authors:  C M Rodriguez; P K Todd
Journal:  Neurobiol Dis       Date:  2019-06-21       Impact factor: 5.996

8.  Composite Agency: Semiotics of Modularity and Guiding Interactions.

Authors:  Alexei A Sharov
Journal:  Biosemiotics       Date:  2017-07-27       Impact factor: 0.711

Review 9.  ChIP-seq and beyond: new and improved methodologies to detect and characterize protein-DNA interactions.

Authors:  Terrence S Furey
Journal:  Nat Rev Genet       Date:  2012-10-23       Impact factor: 53.242

10.  Ray Meta: scalable de novo metagenome assembly and profiling.

Authors:  Sébastien Boisvert; Frédéric Raymond; Elénie Godzaridis; François Laviolette; Jacques Corbeil
Journal:  Genome Biol       Date:  2012-12-22       Impact factor: 13.583

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