An improved assembly and annotation of the allohexaploid wheat genome identifies complete families of agronomic genes and provides genomic evidence for chromosomal translocations DOI Creative Commons
Bernardo Clavijo, Luca Venturini, Christian Schudoma

et al.

Genome Research, Journal Year: 2017, Volume and Issue: 27(5), P. 885 - 896

Published: April 18, 2017

Advances in genome sequencing and assembly technologies are generating many high-quality sequences, but assemblies of large, repeat-rich polyploid genomes, such as that bread wheat, remain fragmented incomplete. We have generated a new wheat whole-genome shotgun sequence using combination optimized data types an algorithm designed to deal with large complex genomes. The represents >78% the scaffold N50 88.8 kb has high fidelity input data. Our annotation combines strand-specific Illumina RNA-seq Pacific Biosciences (PacBio) full-length cDNAs identify 104,091 high-confidence protein-coding genes 10,156 noncoding RNA genes. confirmed three known identified one novel rearrangements. approach enables rapid scalable identification structural variants, definition complete gene models, all powerful resources for trait analysis breeding this key global crop.

Language: Английский

REAPR: a universal tool for genome assembly evaluation DOI Creative Commons
Martin Hunt, Taisei Kikuchi,

Mandy Sanders

et al.

Genome biology, Journal Year: 2013, Volume and Issue: 14(5)

Published: May 27, 2013

Abstract Methods to reliably assess the accuracy of genome sequence data are lacking. Currently completeness is only described qualitatively and mis-assemblies overlooked. Here we present REAPR, a tool that precisely identifies errors in assemblies without need for reference sequence. We have validated REAPR on complete genomes or de novo from bacteria, malaria Caenorhabditis elegans , demonstrate 86% 82% human mouse error-free, respectively. When applied an ongoing project, provides corrected assembly statistics allowing quantitative comparison multiple assemblies. available at http://www.sanger.ac.uk/resources/software/reapr/ .

Language: Английский

Citations

424

Next generation sequencing and its applications in forensic genetics DOI
Claus Børsting, Niels Morling

Forensic Science International Genetics, Journal Year: 2015, Volume and Issue: 18, P. 78 - 89

Published: Feb. 14, 2015

Language: Английский

Citations

416

Genetic architecture: the shape of the genetic contribution to human traits and disease DOI
Nicholas J. Timpson, Celia M.T. Greenwood, Nicole Soranzo

et al.

Nature Reviews Genetics, Journal Year: 2017, Volume and Issue: 19(2), P. 110 - 124

Published: Dec. 11, 2017

Language: Английский

Citations

416

Current challenges and best-practice protocols for microbiome analysis DOI Creative Commons
Richa Bharti, Dominik G. Grimm

Briefings in Bioinformatics, Journal Year: 2019, Volume and Issue: 22(1), P. 178 - 193

Published: Nov. 7, 2019

Analyzing the microbiome of diverse species and environments using next-generation sequencing techniques has significantly enhanced our understanding on metabolic, physiological ecological roles environmental microorganisms. However, analysis is affected by experimental conditions (e.g. errors genomic repeats) computationally intensive cumbersome downstream quality control, assembly, binning statistical analyses). Moreover, introduction new technologies protocols led to a flood methodologies, which also have an immediate effect results analyses. The aim this work review most important workflows for 16S rRNA shotgun long-read metagenomics, as well provide best-practice design, sample processing, sequencing, binning, annotation visualization. To simplify standardize computational analysis, we set metagenomic data (available at https://github.com/grimmlab/MicrobiomeBestPracticeReview).

Language: Английский

Citations

410

An improved assembly and annotation of the allohexaploid wheat genome identifies complete families of agronomic genes and provides genomic evidence for chromosomal translocations DOI Creative Commons
Bernardo Clavijo, Luca Venturini, Christian Schudoma

et al.

Genome Research, Journal Year: 2017, Volume and Issue: 27(5), P. 885 - 896

Published: April 18, 2017

Advances in genome sequencing and assembly technologies are generating many high-quality sequences, but assemblies of large, repeat-rich polyploid genomes, such as that bread wheat, remain fragmented incomplete. We have generated a new wheat whole-genome shotgun sequence using combination optimized data types an algorithm designed to deal with large complex genomes. The represents >78% the scaffold N50 88.8 kb has high fidelity input data. Our annotation combines strand-specific Illumina RNA-seq Pacific Biosciences (PacBio) full-length cDNAs identify 104,091 high-confidence protein-coding genes 10,156 noncoding RNA genes. confirmed three known identified one novel rearrangements. approach enables rapid scalable identification structural variants, definition complete gene models, all powerful resources for trait analysis breeding this key global crop.

Language: Английский

Citations

382