Getting started in mapping-by-sequencing.

Next-generation sequencing (NGS) technologies allow the cost-effective sequencing of whole genomes and have expanded the scope of genomics to novel applications, such as the genome-wide characterization of intraspecific polymorphisms and the rapid mapping and identification of point mutations. Next-generation sequencing platforms, such as the Illumina HiSeq2000 platform, are now commercially available at affordable prices and routinely produce an enormous amount of sequence data, but their wide use is often hindered by a lack of knowledge on how to manipulate and process the information produced. In this review, we focus on the strategies that are available to geneticists who wish to incorporate these novel approaches into their research but who are not familiar with the necessary bioinformatic concepts and computational tools. In particular, we comprehensively summarize case studies where the use of NGS technologies has led to the identification of point mutations, a strategy that has been dubbed "mapping-by-sequencing", and review examples from plants and other model species such as Caenorhabditis elegans, Saccharomyces cerevisiae, and Drosophila melanogaster. As these technologies are becoming cheaper and more powerful, their use is also expanding to allow mutation identification in species with larger genomes, such as many crop plants.

[1]  Steven J. M. Jones,et al.  Whole-Genome Profiling of Mutagenesis in Caenorhabditis elegans , 2010, Genetics.

[2]  M. Blaxter,et al.  RADSeq: next-generation population genetics. , 2010, Briefings in functional genomics.

[3]  Detlef Weigel,et al.  SHOREmap: simultaneous mapping and mutation identification by deep sequencing , 2009, Nature Methods.

[4]  Richard M. Clark,et al.  Sequencing of natural strains of Arabidopsis thaliana with short reads. , 2008, Genome research.

[5]  M. Todesco,et al.  Independent FLC Mutations as Causes of Flowering-Time Variation in Arabidopsis thaliana and Capsella rubella , 2012, Genetics.

[6]  Satoshi Natsume,et al.  Genome sequencing reveals agronomically important loci in rice using MutMap , 2012, Nature Biotechnology.

[7]  S. Jarriault,et al.  Deep sequencing strategies for mapping and identifying mutations from genetic screens , 2013, Worm.

[8]  Thomas E Wilson,et al.  Discovery of Mutations in Saccharomyces cerevisiae by Pooled Linkage Analysis and Whole-Genome Sequencing , 2010, Genetics.

[9]  Eric A. Johnson,et al.  Rapid Mapping and Identification of Mutations in Caenorhabditis elegans by Restriction Site-Associated DNA Mapping and Genomic Interval Pull-Down Sequencing , 2011, Genetics.

[10]  H. Matsumura,et al.  MutMap+: Genetic Mapping and Mutant Identification without Crossing in Rice , 2013, PloS one.

[11]  R. Michelmore,et al.  Identification of markers linked to disease-resistance genes by bulked segregant analysis: a rapid method to detect markers in specific genomic regions by using segregating populations. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[12]  Peter M. Rice,et al.  The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants , 2009, Nucleic acids research.

[13]  W. Goessling,et al.  Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish , 2013, Development.

[14]  L. Farinelli,et al.  Efficient mutation identification in zebrafish by microarray capturing and next generation sequencing. , 2011, Biochemical and biophysical research communications.

[15]  U. Paszkowski,et al.  Mutation identification by direct comparison of whole-genome sequencing data from mutant and wild-type individuals using k-mers , 2013, Nature Biotechnology.

[16]  Oliver Hobert,et al.  C. elegans Mutant Identification with a One-Step Whole-Genome-Sequencing and SNP Mapping Strategy , 2010, PloS one.

[17]  Robert J. Elshire,et al.  A Robust, Simple Genotyping-by-Sequencing (GBS) Approach for High Diversity Species , 2011, PloS one.

[18]  J. Mathieu,et al.  Synteny-based mapping-by-sequencing enabled by targeted enrichment. , 2012, The Plant journal : for cell and molecular biology.

[19]  S. Jarriault,et al.  A Strategy for Direct Mapping and Identification of Mutations by Whole-Genome Sequencing , 2010, Genetics.

[20]  Detlef Weigel,et al.  Fast-forward genetics enabled by new sequencing technologies. , 2011, Trends in plant science.

[21]  C. Somerville,et al.  Selection for herbicide resistance at the whole-plant level , 1987 .

[22]  D. Monos,et al.  Microtubule Actin Crosslinking Factor 1 Regulates the Balbiani Body and Animal-Vegetal Polarity of the Zebrafish Oocyte , 2010, PLoS genetics.

[23]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[24]  S. Henikoff,et al.  Spectrum of chemically induced mutations from a large-scale reverse-genetic screen in Arabidopsis. , 2003, Genetics.

[25]  I. Pe’er,et al.  Caenorhabditis elegans mutant allele identification by whole-genome sequencing , 2008, Nature Methods.

[26]  E. Mardis The impact of next-generation sequencing technology on genetics. , 2008, Trends in genetics : TIG.

[27]  J. Micol,et al.  Rapid identification of angulata leaf mutations using next-generation sequencing , 2014, Planta.

[28]  W. Driever,et al.  Fast Homozygosity Mapping and Identification of a Zebrafish ENU-Induced Mutation by Whole-Genome Sequencing , 2012, PloS one.

[29]  D. Weigel,et al.  User guide for mapping-by-sequencing in Arabidopsis , 2013, Genome Biology.

[30]  R. Last,et al.  Ethylmethanesulfonate Saturation Mutagenesis in Arabidopsis to Determine Frequency of Herbicide Resistance , 2003, Plant Physiology.

[31]  Cristobal Uauy,et al.  Combining SNP discovery from next-generation sequencing data with bulked segregant analysis (BSA) to fine-map genes in polyploid wheat , 2012, BMC Plant Biology.

[32]  B. Beutler,et al.  Rapid Identification of a Disease Allele in Mouse Through Whole Genome Sequencing and Bulk Segregation Analysis , 2011, Genetics.

[33]  Daniel Blankenberg,et al.  CloudMap: A Cloud-Based Pipeline for Analysis of Mutant Genome Sequences , 2012, Genetics.

[34]  B. Paw,et al.  Mutation mapping and identification by whole-genome sequencing , 2012, Genome research.

[35]  Derek J. Van Booven,et al.  Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens , 2012, Biology.

[36]  Noah Fahlgren,et al.  Identification of MIR390a precursor processing-defective mutants in Arabidopsis by direct genome sequencing , 2009, Proceedings of the National Academy of Sciences.

[37]  N. Hall,et al.  Full genome re-sequencing reveals a novel circadian clock mutation in Arabidopsis , 2011, Genome Biology.

[38]  R. Last,et al.  Shotguns and SNPs: how fast and cheap sequencing is revolutionizing plant biology. , 2010, The Plant journal : for cell and molecular biology.

[39]  Peter McCourt,et al.  Next-generation mapping of Arabidopsis genes. , 2011, The Plant journal : for cell and molecular biology.

[40]  N. Warthmann,et al.  Simultaneous alignment of short reads against multiple genomes , 2009, Genome Biology.

[41]  Korbinian Schneeberger,et al.  Fast Isogenic Mapping-by-Sequencing of Ethyl Methanesulfonate-Induced Mutant Bulks1[C][W][OA] , 2012, Plant Physiology.

[42]  R. Gibbs,et al.  Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. , 2010, Genome research.

[43]  O. Hobert The Impact of Whole Genome Sequencing on Model System Genetics: Get Ready for the Ride , 2010, Genetics.

[44]  Cole Trapnell,et al.  Ultrafast and memory-efficient alignment of short DNA sequences to the human genome , 2009, Genome Biology.

[45]  Axel Himmelbach,et al.  Barley whole exome capture: a tool for genomic research in the genus Hordeum and beyond , 2013, The Plant journal : for cell and molecular biology.

[46]  P. Waterhouse,et al.  Facile mutant identification via a single parental backcross method and application of whole genome sequencing based mapping pipelines , 2013, Front. Plant Sci..

[47]  E. Mauceli,et al.  Mutation discovery in mice by whole exome sequencing , 2011, Genome Biology.

[48]  D. Weigel,et al.  Identification of a Spontaneous Frame Shift Mutation in a Nonreference Arabidopsis Accession Using Whole Genome Sequencing1 , 2010, Plant Physiology.

[49]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[50]  S. Henikoff,et al.  High-throughput screening for induced point mutations. , 2001, Plant physiology.

[51]  M. Metzker Sequencing technologies — the next generation , 2010, Nature Reviews Genetics.

[52]  Henry R. Bigelow,et al.  MAQGene: software to facilitate C. elegans mutant genome sequence analysis , 2009, Nature Methods.

[53]  Paul D. Shaw,et al.  Using Tablet for visual exploration of second-generation sequencing data , 2013, Briefings Bioinform..

[54]  R. Lister,et al.  Next is now: new technologies for sequencing of genomes, transcriptomes, and beyond. , 2009, Current opinion in plant biology.

[55]  F. Brandizzi,et al.  A missense mutation in the vacuolar protein GOLD36 causes organizational defects in the ER and aberrant protein trafficking in the plant secretory pathway. , 2010, The Plant journal : for cell and molecular biology.

[56]  Rajinder Singh,et al.  The oil palm Shell gene controls oil yield and encodes a homologue of SEEDSTICK , 2013, Nature.

[57]  J. Newberg,et al.  Identification of EMS-Induced Mutations in Drosophila melanogaster by Whole-Genome Sequencing , 2009, Genetics.