Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads.
Gerton Lunter,Martin Goodson +1 more
TLDR
A read mapper, Stampy, which uses a hybrid mapping algorithm and a detailed statistical model to achieve both speed and sensitivity, particularly when reads include sequence variation, which results in a higher useable sequence yield and improved accuracy compared to that of existing software.Abstract:
High-volume sequencing of DNA and RNA is now within reach of any research laboratory and is quickly becoming established as a key research tool. In many workflows, each of the short sequences ("reads") resulting from a sequencing run are first "mapped" (aligned) to a reference sequence to infer the read from which the genomic location derived, a challenging task because of the high data volumes and often large genomes. Existing read mapping software excel in either speed (e.g., BWA, Bowtie, ELAND) or sensitivity (e.g., Novoalign), but not in both. In addition, performance often deteriorates in the presence of sequence variation, particularly so for short insertions and deletions (indels). Here, we present a read mapper, Stampy, which uses a hybrid mapping algorithm and a detailed statistical model to achieve both speed and sensitivity, particularly when reads include sequence variation. This results in a higher useable sequence yield and improved accuracy compared to that of existing software.read more
Citations
More filters
Journal ArticleDOI
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
TL;DR: This work presents a method named HISAT2 (hierarchical indexing for spliced alignment of transcripts 2) that can align both DNA and RNA sequences using a graph Ferragina Manzini index, and uses it to represent and search an expanded model of the human reference genome.
Journal ArticleDOI
Double Digest RADseq: An Inexpensive Method for De Novo SNP Discovery and Genotyping in Model and Non-Model Species
TL;DR: This modified RADseq approach requires no prior genomic knowledge and achieves per-site and per-individual costs below that of current SNP chip technology, while requiring similar hands-on time investment, comparable amounts of input DNA, and downstream analysis times on the order of hours.
Journal ArticleDOI
Repetitive DNA and next-generation sequencing: computational challenges and solutions.
TL;DR: The computational problems surrounding repeats are discussed and strategies used by current bioinformatics systems to solve them are described.
Journal ArticleDOI
Genotype and SNP calling from next-generation sequencing data
TL;DR: Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data.
Journal ArticleDOI
Butterfly genome reveals promiscuous exchange of mimicry adaptations among species
Kanchon K. Dasmahapatra,James R. Walters,Adriana D. Briscoe,John W. Davey,Annabel Whibley,Nicola J. Nadeau,Aleksey V. Zimin,Daniel S.T. Hughes,Laura Ferguson,Simon H. Martin,Camilo Salazar,Camilo Salazar,James J. Lewis,Sebastian Adler,Seung-Joon Ahn,Dean A. Baker,Simon W. Baxter,Nicola Chamberlain,Ritika Chauhan,Brian A. Counterman,Tamas Dalmay,Lawrence E. Gilbert,Karl H.J. Gordon,David G. Heckel,Heather M. Hines,Katharina J. Hoff,Peter W. H. Holland,Emmanuelle Jacquin-Joly,Francis M. Jiggins,Robert T. Jones,Durrell D. Kapan,Durrell D. Kapan,Paul J. Kersey,Gerardo Lamas,Daniel Lawson,Daniel Mapleson,Luana S. Maroja,Arnaud Martin,Simon Moxon,William J. Palmer,Riccardo Papa,Alexie Papanicolaou,Yannick Pauchet,David A. Ray,Neil Rosser,Steven L. Salzberg,Megan A. Supple,Alison K. Surridge,Ayşe Tenger-Trolander,Heiko Vogel,Paul A. Wilkinson,Derek Wilson,James A. Yorke,Furong Yuan,Alexi Balmuth,Cathlene Eland,Karim Gharbi,Marian Thomson,Richard A. Gibbs,Yi Han,Joy Jayaseelan,Christie Kovar,Tittu Mathew,Donna M. Muzny,Fiona Ongeri,Ling-Ling Pu,Jiaxin Qu,Rebecca Thornton,Kim C. Worley,Yuanqing Wu,Mauricio Linares,Mark Blaxter,Richard H. ffrench-Constant,Mathieu Joron,Marcus R. Kronforst,Sean P. Mullen,Robert D. Reed,Steven E. Scherer,Stephen Richards,James Mallet,James Mallet,W. Owen McMillan,Chris D. Jiggins,Chris D. Jiggins +83 more
TL;DR: It is inferred that closely related Heliconius species exchange protective colour-pattern genes promiscuously, implying that hybridization has an important role in adaptive radiation.
References
More filters
Journal ArticleDOI
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li,Richard Durbin +1 more
TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
TL;DR: Bowtie extends previous Burrows-Wheeler techniques with a novel quality-aware backtracking algorithm that permits mismatches and can be used simultaneously to achieve even greater alignment speeds.
Journal ArticleDOI
RNA-Seq: a revolutionary tool for transcriptomics
TL;DR: The RNA-Seq approach to transcriptome profiling that uses deep-sequencing technologies provides a far more precise measurement of levels of transcripts and their isoforms than other methods.
Journal ArticleDOI
A Map of Human Genome Variation From Population-Scale Sequencing
Gonçalo R. Abecasis,David Altshuler,David Altshuler,Adam Auton,Lisa D Brooks,Richard Durbin,Richard A. Gibbs,Matthew E. Hurles,Gil McVean +8 more
TL;DR: The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype as mentioned in this paper, and the results of the pilot phase of the project, designed to develop and compare different strategies for genomewide sequencing with high-throughput platforms.
Journal ArticleDOI
Sequencing technologies-the next generation
TL;DR: A technical review of template preparation, sequencing and imaging, genome alignment and assembly approaches, and recent advances in current and near-term commercially available NGS instruments is presented.