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Massively parallel reporter assays identify 165 functional variants associated with skin pigmentation in ethnically diverse Africans. Functional characterization of eight variants demonstrates their impact in regulating melanin levels and validates CYB561A3 as a novel gene involved in melanogenesis and pigmentation.
A new computational method coupled with a CRISPR–Cas12a screen identifies human long noncoding RNAs (lncRNAs) that lead to cell proliferation defects, which can be rescued by zebrafish homologs. Knockdown of four zebrafish lncRNAs that perturb embryonic development can be rescued by human homologs.
Genome-wide association analyses identify 13 loci associated with gestational diabetes, showing partial overlap with type 2 diabetes risk loci but also distinct genetic architecture predominantly influencing pregnancy-related mechanisms.
Multi-ancestry genome-wide association meta-analysis of major depression identifies new risk loci, assesses the transferability of risk loci across ancestry groups, and improves fine-mapping resolution and prioritization of candidate effector genes.
The pilot phase of PigGTEx, re-analyzing 5,457 published RNA-seq samples, presents a pan-tissue catalog of molecular quantitative trait loci. Cross-species comparisons identify traits with shared genetic regulation in humans.
A human genetics-informed drug prioritization tool, genetic priority score (GPS), combines genetic features and drug datasets. GPS-supported indications are more likely to progress through clinical trials, suggesting the utility of this score for target prioritization.
The field of spatial omics is developing rapidly, with a potentially transformative effect across many areas of biology. Nature Genetics invites authors to submit papers that use these techniques to answer questions of broad interest to researchers working in genetics and genomics.
MESuSiE extends fine-mapping approaches to multi-ancestry analysis using LD-aware bivariate normal mixture models with a variational algorithm to identify shared and ancestry-specific causal variants.
While the number of SARS-CoV-2 genome sequences grew to over 15 million, the Ultrafast Sample placement on Existing tRees (UShER) tool suite maintained a comprehensive phylogenetic tree in near real time. This experience, and critical performance improvements throughout the pandemic, provide valuable lessons for rapidly scaling analyses.
Multi-ancestry genome-wide association analyses identify new risk loci for Parkinson’s disease, and fine-mapping and co-localization analyses implicate candidate genes whose expression is associated with disease susceptibility.
The spatial biology revolution promises deep insights into tissue organization, but deriving this knowledge from diverse, complex data remains a major obstacle. Data-driven discovery of the multicellular organization of tissues is now achieved by transforming multimodal spatial imaging data using deep learning.
A new study combining experimental treatments of human blood cells from thousands of individuals with flow-cytometry-based phenotyping and then genome-wide association analyses identifies genetic loci associated with non-resting cell states. Integrating the results with disease association signals yields insights into the underlying biology.
Polymorphisms in the non-coding genome affect genetic circuits and result in variable immune responses across individuals. Here we report a genetic circuit involving a long non-coding RNA (lncRNA) that spatially coordinates chromatin contacts to control pro- and anti-inflammatory gene expression and shape immune responses of healthy individuals to pathogens or vaccination.
New research reports that paused RNA polymerase II (RNAPII) enhances the targeting and activity of BAF chromatin remodelers. These findings suggest a new paradigm for understanding how the collaborative action of chromatin remodelers and the transcriptional machinery govern cell-type-specific chromatin accessibility.
CX-5461 (also known as pidnarulex), currently in phase 1/2 trials, induces selective killing of homologous-recombination-deficient or BRCA1- or BRCA2-mutated tumors in preclinical models. New work confirms these findings but shows it to be a remarkably potent mutagen that induces extensive genetic changes in cultured human cells with or without BRCA1/2 mutations, raising substantial safety issues.
Long segments of the genome that are shared ‘identical by descent’ (IBD) demonstrate recent relatedness between individuals. A new computational method robustly identifies shared IBD segments in human ancient DNA data, providing insights into the mobility and demography of prehistoric human societies.
ancIBD identifies identity-by-descent regions in ancient DNA using a hidden Markov model optimized for these low-coverage data. Analysis of 4,248 individuals demonstrates that ancIBD can identify up to sixth-degree relatives and provides genealogical insights into ancient populations.
A powerful Bayesian method, BridgePRS, leverages shared genetic effects across ancestries to increase polygenic risk score portability in non-European populations.
