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A publication in Nature reports the data release of around 245,000 clinical-grade whole-genome sequences as part of the NIH’s All of Us Research Programme. Several companion papers highlight the value of better capturing global genomic diversity.

Reflecting on the importance of short tandem repeats (STRs) in population genetics, Ning Xie highlights a 2023 publication that characterized genome-wide STR variation in global human genomes to expand our understanding of STR genetic diversity within and across populations.

Data that span 15 generations reveal how gene flow and selection in a subordinate mesopredator are affected by pathogen-driven declines in the population density of a top predator. This work highlights the evolutionary impacts of interspecific competition and elucidates landscape-scale effects of an indirect interaction between a pathogen and nonhost species.

Bruce Budowle and Antti Sajantila reflect on how short tandem repeats (STRs) became the primary markers of forensic genetics, including for developing investigative leads in criminal cases and humanitarian efforts.

In five new studies, the Human Pangenome Reference Consortium reports the generation and initial characterization of a draft human pangenome.

In this Journal Club, Yoav Ram recalls how he reconciled results from his own research with the reduction principle through the help of a paper published in PNAS by Altenberg et al.

Four papers in Nature describe how ancient European migration patterns have shaped the modern human genome.

A study in Science shows that anthropologically informed approaches to genome sequencing can provide a fuller understanding of human genetic variation, including new insights into how past events have led to present-day population structure.

In a prospective study involving 1,090 high-risk pregnancies, a comprehensive screening test of fetal cell-free DNA successfully detected pathogenic aneuploidies, microdeletions and monogenic variants linked to fetal anomalies. The inclusion of monogenic conditions alongside chromosomal abnormalities in this test resulted in a 60.7% increase in the detection rate for suspected fetal structural abnormalities.

Efforts to monitor genetic diversity in populations vary greatly among European countries. The populations and species that are most likely to experience the greatest impacts of climate change are not well covered by these efforts, which suggests an urgent need for a substantial expansion in their monitoring.

A comparative genomics study published in Nature Communications provides new insight into the genomic changes underlying the convergent evolution of sociality in spiders.

Orphan crops hold the potential to diversify our food systems. Considering their unique characteristics, our deep understanding of major crops, and the availability of modern genomic tools, taking a different research path from what major crops have gone through could accelerate the genetic improvement of orphan crops.

A paper in Nature Communications describes a framework for identifying seed traits in food crops that have health-promoting effects on the gut microbiome, with implications for crop improvement approaches.

In this paper in Nature Genetics, Atkinson et al. describe Tractor, a statistical framework and software package that enables admixed populations to be included in large-scale genomics studies.

This study reports a compendium of cell-type-specific regulatory annotations that improves the trans-ancestry portability of polygenic risk scores.

Park and colleagues describe in Nature Medicine a ‘genome-first’ approach to associate rare predicted loss-of-function genetic variants from whole-exome sequencing data with clinical phenotypes from electronic health records.

Underutilised crops or orphan crops are important for diversifying our food systems towards food and nutrition security. Here, the authors discuss how the development of underutilised crop genomic resource should align with their breeding and capacity building strategies, and leverage advances made in major crops.

A recent article published inNature describes a novel genetic mechanism of immune evasion in a number of cancers that is caused by structural variants (SVs) disrupting the 3′ regulatory region of programmed cell death ligand 1 (PDL1).

A new study in Cell has characterized genome-wide dosage sensitivity for 54 human disorders, providing insight into the causal genes and disease mechanisms associated with rare copy-number variants.

A study in Nature Genetics applies whole-genome sequencing to monozygotic twins, their parents, partners and offspring to identify and characterize early developmental mutations, as well as the fate of mutated cells.

A study in Nature analysing genome-wide variation in individuals from islands across Polynesia reports evidence of admixture with Native Americans related to Indigenous inhabitants of northern South America.

New research has identified a novel, de novo mutation in the TLR7 gene that increases the affinity of TLR7 for guanosine, leading to TLR7 overactivation and child-onset systemic lupus erthematosus.

Evolutionary trees link ancient and modern human genomes.

Collaboration between geneticists and economists has the potential to bear fruit.

A study in Nature retraces the convergent evolution of resistance to cardiac glycosides in insects, pinpointing the adaptive alleles and their functional consequences.

A new study has identified genetic determinants of mosaic loss of chromosome Y (LOY) in leukocytes that are also associated with increased risk of various non-haematological cancers, suggesting LOY in blood is a biomarker of genome instability in other tissues.

Two studies in Nature Genetics provide high-resolution maps of genetic variation across melon and watermelon species, respectively, and identify candidate loci linked to fruit quality traits through genome-wide association studies and population genomic analyses.

During ageing, many normal human tissues become a patchwork of mutant clones. Colom et al. show that, in mutagenized mouse oesophageal epithelium, this mutational landscape arises through cell competition, with clone fitness determined by the genotype of their neighbours.

A large-scale single-cell genomics study of planktonic bacteria and archaea that inhabit the surface ocean broadens insights into the heterogeneity and genomic composition of this marine microbiome.

A study in eLife identifies 71 nuclear loci associated with mitochondrial DNA copy number (mtDNA-CN) and reveals a putative causal role for mtDNA-CN in dementia.

A study in Science reports the genetic determinants of differences in immune responses to viral infection between individuals of European and African ancestries.

A Nature Genetics study reports the findings of a genome-wide associationstudy of educational attainment in 1.1 million individuals.

Phased genomes from diverse human populations are assembled using multiple sequencing technologies.