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Analysis of rare coding variants in the UK Biobank identifies eight genes associated with adult cognitive function, including KDM5B. Rare and common variant signals overlap and contribute additively to the phenotype.
Analyses of whole-genome and RNA sequencing data from 2,733 African American, Puerto Rican and Mexican American individuals reveal ancestry-specific patterns in the genetic architecture of whole-blood gene expression.
Single-cell multiomic and functional characterization of human pancreatic islets identifies two beta cell subtypes correlated with type 2 diabetes progression that exhibit distinct gene regulatory programs and electrophysiological phenotypes.
Two studies describe kinase fusion proteins (KFPs) that regulate the perception and deception of wheat pathogens. These highlight the emergence of KFPs as plant immune regulators and emphasize the importance of crop wild relatives as a reservoir for resistance breeding and global food security.
The resistance gene Lr9, which was introduced into bread wheat from the wild grass species Aegilops umbellulata, encodes an unusual tandem kinase fusion protein that confers wheat leaf rust resistance.
The resistance gene Sr43, which was crossed into bread wheat from the wild grass Thinopyrum elongatum, encodes an unusual protein kinase fusion protein that confers wheat stem rust resistance.
Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have limitations — as exemplified by multiracial individuals. We argue that including these individuals will foster inclusion by better capturing complex identities, with equity benefits for the full human population.
As computational analysis becomes ever-more ubiquitous for researchers, the deposition of the underlying code is now an expected part of publication. Shortcomings in code sharing can lead to delays in peer review and publication, as well as reproducibility issues that are easily avoided with author preparation.
Causal robust mapping method in meta-analysis (CARMA) studies incorporates flexible prior distributions, joint modeling of summary statistics and functional annotations and outlier detection for improved causal variant fine-mapping in genome-wide association meta-analyses.
MEGAnE is a new tool to detect and genotype mobile element variants (MEVs) from short-read whole-genome sequencing datasets. Genetic analyses implicate MEVs as population-specific drivers of gene expression variation and disease risk.
Genomic and transcriptomic analysis of 470 mostly high-risk neuroblastomas collected from 283 patients delineates subtype-specific evolutionary patterns and progression-related convergent evolution and describes the clonal dynamics of metastases.
Tumors develop mechanisms to escape immune destruction. A systematic analysis of large genome sequencing datasets shows that one in four tumors develop genetic immune escape and its prevalence is remarkably similar between primary and metastatic tumors, suggesting that immune escape is an early event during tumor evolution.
A pan-cancer analysis of primary and metastatic tumors highlights the diversity of genetic immune escape mechanisms established during tumor evolution. The authors also present LILAC, a tool to characterize the HLA-I locus from whole-genome sequencing data.
Genome-wide association analyses across individuals of East Asian and European ancestries identify new risk loci for inflammatory bowel diseases. A polygenic risk score derived from the combined datasets shows improved prediction accuracy.
