Application of multiancestry and ensemble-based approaches yields improved polygenic risk prediction models for breast cancer and its subtypes among women of African ancestry.

This study presents LoopID, which profiles proteins at targeted interacting enhancer–promoter (E-P) pairs, identifying the histone demethylase JMJD2 as a regulator of E-P interactions through biomolecular condensate formation independent of its catalytic activity.

A genus-wide super-pangenome across 16 tomato species generated by integrating 20 telomere-to-telomere genome assemblies and 27 published genomes identifies structural variants associated with salinity or disease resistance for molecular breeding.

Swave is a method to call structural variants from pangenome graphs using a recurrent neural network to identify structural variant patterns, including complex structural variants.

Single-variant and ultrarare variant burden analyses leveraging exome sequencing data from 22 cohorts identify new risk genes for amyotrophic lateral sclerosis and show cumulative effects of several rare variants on disease risk.

An analysis of rare disease cohorts from the UK, the USA, Italy and the Netherlands identifies a neurodevelopmental disorder caused by biallelic variants in RNU2-2. Individuals with this disorder have substantially reduced levels of U2-2 small nuclear RNA in blood.

A new method for performing genome-wide fine-mapping with functional annotations outperforms current methods across several metrics, including error control, mapping power, resolution, precision, replication rate and cross-ancestry phenotype prediction.

Analysis of sequencing data from rare disease cohorts identifies biallelic variants in RNU2-2 underlying a developmental and epileptic encephalopathy associated with reduced U2-2 abundance and clinically distinct from the dominant RNU2-2 disorder.

Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes of neurodevelopmental disorders with epilepsy.

Analyses of leukocyte telomere length in All of Us identify associations with various lifestyle, socioeconomic and disease traits. Genome-wide analyses combining All of Us with UK Biobank data discover new loci contributing to telomere length variation.