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Phylogenetic compression achieves performant and lossless compression of massive collections of microbial genomes, facilitating fast BLAST-like search and versatile alignment tasks.

Hawkey et al. provide insights into the spatio-temporal distribution and genetic diversity of Salmonella Paratyphi B — the agent of paratyphoid B fever — and report a genotyping scheme facilitating the international surveillance of this pathogen.

Molecular diagnostics for tuberculosis have focused on predicting drug susceptibilities in a binary manner (i.e., strains are either susceptible or resistant). Here, CRyPTIC Consortium researchers use whole genome sequencing and a quantitative assay to identify associations between genomic mutations and minimum inhibitory concentrations in over 15,000 Mycobacterium tuberculosis clinical isolates.

The clinical application of new sequencing techniques is expected to accelerate pathogen identification. Here, Bradley et al. present a clinician-friendly software package that uses sequencing data for quick and accurate prediction of antibiotic resistance profiles for S. aureus and M. tuberculosis.

The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

Whole genome sequencing is increasingly being adopted for Shigella sonnei outbreak investigation and surveillance, but there is no global classification standard. Here, the authors develop and validate a genomic framework implemented using open-source software, and demonstrate its application using surveillance data.

The global set of bacterial and viral sequences can be rapidly searched using a data structure inspired by web-search algorithms.

The recent plasmid-mediated spread of the mobilized colistin resistance gene mcr-1 poses a significant public health threat, requiring worldwide monitoring and surveillance. Here, Wang et al. compile and analyze a data set of 457 mcr-1-positive sequenced isolates to investigate the origin and global distribution of mcr-1.

Gil McVean and colleagues report algorithms for de novo assembly and genotyping of variants using colored de Bruijn graphs and provide these in a software implementation called Cortex. Their methods can detect and genotype both simple and complex genetic variants in either an individual or a population.

Daniel Jeffares, Jürg Bähler and colleagues report the genome sequences of 161 natural isolates of Schizosaccharomyces pombe, finding moderate genetic diversity and weak global population structure. They also report genome-wide association studies for 223 quantitative traits.

Harnessing information from whole genome sequencing in 185 individuals, this study generates a high-resolution map of copy number variants. Nucleotide resolution of the map facilitates analysis of structural variant distribution and identification of the mechanisms of their origin. The study provides a resource for sequence-based association studies.

New antibiotics are urgently needed to combat rising rates of resistance against all existing classes of antimicrobials. We highlight key issues that complicate the prediction of resistance evolution in the real world and outline the ways in which these can be overcome.

1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

Gil McVean, Alexander Dilthey and colleagues present a graphical model-based method for accurate genomic assembly that uses the diversity present in multiple reference sequences, as represented by a population reference graph. The method is applied to simulated and empirical data from the human MHC region to demonstrate the improved accuracy of genomic inference.

Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

Gerton Lunter and colleagues report Platypus software, which combines a haplotype-based multi-sample variant caller with local sequence assembly in a Bayesian statistical framework. They demonstrate applications to exome and whole-genome data sets, to the identification de novo mutations in parent-offspring trios and to the genotyping of HLA loci.

A GWAS method that captures lineage-level associations even when locus-specific associations cannot be fine-mapped, detects genes and genetic variants underlying resistance to antimicrobials in M. tuberculosis, S. aureus, E. coli and K. pneumoniae.