Journal ArticleDOI
Sequencing depth and coverage: key considerations in genomic analyses
TLDR
The issue of sequencing depth in the design of next-generation sequencing experiments is discussed and current guidelines and precedents on the issue of coverage are reviewed for four major study designs, including de novo genome sequencing, genome resequencing, transcriptome sequencing and genomic location analyses.Abstract:
Sequencing technologies have placed a wide range of genomic analyses within the capabilities of many laboratories. However, sequencing costs often set limits to the amount of sequences that can be generated and, consequently, the biological outcomes that can be achieved from an experimental design. In this Review, we discuss the issue of sequencing depth in the design of next-generation sequencing experiments. We review current guidelines and precedents on the issue of coverage, as well as their underlying considerations, for four major study designs, which include de novo genome sequencing, genome resequencing, transcriptome sequencing and genomic location analyses (for example, chromatin immunoprecipitation followed by sequencing (ChIP-seq) and chromosome conformation capture (3C)).read more
Citations
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A survey of best practices for RNA-seq data analysis
Ana Conesa,Pedro Madrigal,Pedro Madrigal,Sonia Tarazona,David Gomez-Cabrero,Alejandra Cervera,Andrew McPherson,Michał Wojciech Szcześniak,Daniel J. Gaffney,Laura L. Elo,Xuegong Zhang,Ali Mortazavi +11 more
TL;DR: All of the major steps in RNA-seq data analysis are reviewed, including experimental design, quality control, read alignment, quantification of gene and transcript levels, visualization, differential gene expression, alternative splicing, functional analysis, gene fusion detection and eQTL mapping.
Journal ArticleDOI
Estimating the population abundance of tissue-infiltrating immune and stromal cell populations using gene expression
Etienne Becht,Nicolas A. Giraldo,Nicolas A. Giraldo,Nicolas A. Giraldo,Laetitia Lacroix,Laetitia Lacroix,Laetitia Lacroix,Bénédicte Buttard,Bénédicte Buttard,Bénédicte Buttard,Nabila Elarouci,Florent Petitprez,Janick Selves,Pierre Laurent-Puig,Catherine Sautès-Fridman,Catherine Sautès-Fridman,Catherine Sautès-Fridman,Wolf H. Fridman,Wolf H. Fridman,Wolf H. Fridman,Aurélien de Reyniès +20 more
TL;DR: The Microenvironment Cell Populations-counter method is introduced, which allows the robust quantification of the absolute abundance of eight immune and two stromal cell populations in heterogeneous tissues from transcriptomic data and demonstrates that MCP-counter overcomes several limitations or weaknesses of previously proposed computational approaches.
Journal ArticleDOI
Recovery of nearly 8,000 metagenome-assembled genomes substantially expands the tree of life
Donovan H. Parks,Christian Rinke,Maria Chuvochina,Pierre-Alain Chaumeil,Ben J. Woodcroft,Paul N. Evans,Philip Hugenholtz,Gene W. Tyson +7 more
TL;DR: The recovery of 7,903 bacterial and archaeal metagenome-assembled genomes increases the phylogenetic diversity represented by public genome repositories and provides the first representatives from 20 candidate phyla.
Journal ArticleDOI
Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data
TL;DR: Qualimap 2 represents a next step in the QC analysis of HTS data, along with comprehensive single-sample analysis of alignment data, and includes new modes that allow simultaneous processing and comparison of multiple samples.
Journal ArticleDOI
UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy
TL;DR: It is shown that errors in the UMI sequence are common and network-based methods to account for these errors when identifying PCR duplicates are introduced, demonstrating the value of properly accounting for errors in UMIs.
References
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Journal ArticleDOI
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
Keith Bradnam,Joseph Fass,Anton Alexandrov,Paul Baranay,Michael Bechner,Inanc Birol,Sébastien Boisvert,Jarrod Chapman,Guillaume Chapuis,Guillaume Chapuis,Rayan Chikhi,Rayan Chikhi,Hamidreza Chitsaz,Wen-Chi Chou,Jacques Corbeil,Cristian Del Fabbro,Roderick R. Docking,Richard Durbin,Dent Earl,Scott J. Emrich,Pavel Fedotov,Nuno A. Fonseca,Ganeshkumar Ganapathy,Richard A. Gibbs,Sante Gnerre,Elenie Godzaridis,Steve Goldstein,Matthias Haimel,Giles Hall,David Haussler,Joseph B. Hiatt,Isaac Ho,Jason T. Howard,Martin Hunt,Shaun D. Jackman,David B. Jaffe,Erich D. Jarvis,Huaiyang Jiang,Sergey Kazakov,Paul J. Kersey,Jacob O. Kitzman,James R. Knight,Sergey Koren,Tak-Wah Lam,Dominique Lavenier,Dominique Lavenier,Dominique Lavenier,François Laviolette,Yingrui Li,Zhenyu Li,Binghang Liu,Yue Liu,Ruibang Luo,Iain MacCallum,Matthew D. MacManes,Nicolas Maillet,Nicolas Maillet,Sergey Melnikov,Delphine Naquin,Delphine Naquin,Zemin Ning,Thomas D. Otto,Benedict Paten,Octávio S. Paulo,Adam M. Phillippy,Francisco Pina-Martins,Michael Place,Dariusz Przybylski,Xiang Qin,Carson Qu,Filipe J. Ribeiro,Stephen Richards,Daniel S. Rokhsar,Daniel S. Rokhsar,J. Graham Ruby,J. Graham Ruby,Simone Scalabrin,Michael C. Schatz,David C. Schwartz,Alexey Sergushichev,Ted Sharpe,Timothy I. Shaw,Jay Shendure,Yujian Shi,Jared T. Simpson,Henry Song,Fedor Tsarev,Francesco Vezzi,Riccardo Vicedomini,Bruno Vieira,Jun Wang,Kim C. Worley,Shuangye Yin,Siu-Ming Yiu,Jianying Yuan,Guojie Zhang,Hao Zhang,Shiguo Zhou,Ian F Korf +98 more
TL;DR: The Assemblathon 2 as discussed by the authors presented a variety of sequence data to be assembled for three vertebrate species (a bird, a fish, and a snake) from 21 participating teams.
Journal ArticleDOI
CNV-seq, a new method to detect copy number variation using high-throughput sequencing.
TL;DR: The results show that the number of reads, not the length of the reads is the key factor determining the resolution of detection, which favors the next-generation sequencing methods that rapidly produce large amount of short reads.
Journal ArticleDOI
Copy number variation detection and genotyping from exome sequence data
Niklas Krumm,Peter H. Sudmant,Arthur Ko,Brian J. O'Roak,Maika Malig,Bradley P. Coe,Aaron R. Quinlan,Deborah A. Nickerson,Evan E. Eichler +8 more
TL;DR: A novel method using singular value decomposition (SVD) normalization to discover rare genic copy number variants (CNVs) as well as genotype copy number polymorphic (CNP) loci with high sensitivity and specificity from exome sequencing data is developed.
Journal ArticleDOI
The mutation spectrum revealed by paired genome sequences from a lung cancer patient
William Lee,Zhaoshi Jiang,Jinfeng Liu,Peter M. Haverty,Yinghui Guan,Jeremy Stinson,Peng Yue,Yan Zhang,Krishna P. Pant,Deepali Bhatt,Connie Ha,Stephanie Johnson,Michael I. Kennemer,Sankar Mohan,Igor Nazarenko,Colin K. Watanabe,Andrew B. Sparks,David S. Shames,Robert Gentleman,Frederic J. de Sauvage,Howard M. Stern,Ajay Pandita,Dennis G. Ballinger,Radoje Drmanac,Zora Modrusan,Somasekar Seshagiri,Zemin Zhang +26 more
TL;DR: A comprehensive view of somatic alterations in a single lung tumour is presented, and the first evidence, to the authors' knowledge, of distinct selective pressures present within the tumour environment is provided.
Journal ArticleDOI
Fast computation and applications of genome mappability.
Thomas Derrien,Jordi Estellé,Santiago Marco Sola,David G. Knowles,Emanuele Raineri,Roderic Guigó,Paolo Ribeca +6 more
TL;DR: A fast mapping-based algorithm is presented to compute the mappability of each region of a reference genome up to a specified number of mismatches, highlighting mappable as an important concept which deserves to be taken into full account when massively parallel sequencing technologies are employed.