ARG-Needle is a method to infer genome-wide genealogies from large-scale genotyping data that can be used in association analyses. Applied to UK Biobank data, genealogy-based testing finds more trait associations than using imputed genotypes.

A deep convolutional neural network calculates liability scores for chronic obstructive pulmonary disease (COPD) from raw spirogram traces and noisy medical-record-based labels in the UK Biobank. Genome-wide analyses using these scores replicate known loci for lung function and identify 67 new disease loci.

Genomic and transcriptomic analysis of 393 non-small cell lung cancer patients treated with checkpoint inhibitors identifies molecular features associated with response.

SOX9 titration in neural crest cells identifies regulatory elements and genes with sensitive or buffered responses. Sensitive genes are enriched for craniofacial disorder genes phenocopying SOX9, suggesting differential sensitivity contributes to phenotypic specificity.

Genome-wide association analyses identify risk loci for spontaneous coronary artery dissection and implicate arterial integrity and tissue-mediated coagulation in the disease etiology. Several risk variants show opposite effects on coronary artery disease risk.

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.

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.