Volume 50 Issue 11, November 2018

The availability of various public resources has hastened the discovery of type 2 diabetes–associated loci in the largest genome-wide association study of the disease reported to date. In addition, these resources have also enabled researchers to get closer to determining the culprit genetic variants and therefore closer to the target effector genes driving these associations.

A mapping approach that screens mutants in a sterile interspecific hybrid identifies the genetic determinants of differences in high-temperature growth between divergent Saccharomyces cerevisiae and Saccharomyces paradoxus yeast species.

Combining 32 genome-wide association studies with high-density imputation provides a comprehensive view of the genetic contribution to type 2 diabetes in individuals of European ancestry with respect to locus discovery, causal-variant resolution, and mechanistic insight.

Analysis of genetic data and blood lipid measurements from over 300,000 participants in the Million Veteran Program identifies new associations for blood lipid traits.

Genome-wide and metagenome-wide association study of 92 cardiovascular-diseases-related proteins identifies genetic and microbial factors that explain 76.6% of inter-individual variation, highlighting the role of gut microbiome in cardiovascular disease.

Sequencing nascent RNAs at single-molecule resolution with CoPRO unravels the interplay between Pol II initiation, capping and pausing. Transcription start site clusters provide a framework for understanding genome regulatory architecture.

Two hundred and eighty-five methylomes and 11,617 transcriptomes from peripheral blood samples with parent-of-origin-phased haplotypes produce a new map of imprinted methylation and gene expression patterns across the human genome.

Chromatin run-on and sequencing (ChRO-seq) is a new method that maps the location of RNA polymerase using virtually any input sample. Here, ChRO-seq is used to study nascent transcription in human glioblastoma, and to identify regulators of tumor subtype.

Sequencing of haploid sugarcane, Saccharum spontaneum, allows assembly of a prototypical version of the sugarcane chromosome set. This new reference genome will serve as a resource to accelerate sugarcane improvement.

Sequence assemblies for the genomes of 16 widely used inbred laboratory mouse strains highlight considerable strain-specific haplotype variation and allow for the identification of regions with the greatest sequence diversity between strains.

Analysis of mRNA splicing in the dorsolateral prefrontal cortex from two cohorts established to study aging identifies variations in pre-mRNA splicing events that are associated with Alzheimer’s disease.

GeneATLAS is a web resource that presents genetic association results for 118 non-binary and 660 binary traits using UK Biobank data. This atlas allows researchers to query these results without incurring high computational costs.

The authors extend stratified linkage disequilibrium score regression to partition the heritability of both low-frequency and common variants in 40 heritable traits from the UK Biobank, providing insights into low-frequency and rare variant functional architectures.

The heteroskedastic linear mixed model is a new framework for testing both mean and variance effects on quantitative traits. Applying the heteroskedastic linear mixed model to body mass index in the UK Biobank shows that the approach increases the power to detect associated loci.