Calina and Grafenhorst et al. using DNA methylation profiling of mucinous ovarian tumors characterize two mucinous ovarian carcinoma (MOC) subgroups with potential differing outcomes and describe epig...

Isoforms are seldom considered in genetic variant interpretation. Here the authors map common and rare variants to alternative isoforms, which can be highly expressed and tissue-specific. A common DPP...

Background Aquaculture is the fastest growing farmed food sector and is a key part of global food security. Crustacean aquaculture, while being one of the most profitable sectors, is threatened by pat...

Atopic dermatitis (AD), asthma, food allergy, and respiratory allergy are common childhood conditions with significant disease burden. Current understanding implicates the skin-barrier and the dual-a....

Background. Salmonella enterica serovar Typhi (S. Typhi), the causative agent of typhoid fever, continues to pose a major public health challenge in many low- and middle-income countries. The World He...

Dr Kyle Ewart is a Postdoctoral Researcher in the Conservation Genetics Group at The Royal (Dick) School of Veterinary Studies and the Roslin Institute. Here Kyle talks about using nanopore DNA sequen...

Abstract. Ancestral recombination graphs (ARGs) are an attractive means for quantitative genetic analysis of complex traits because they encode the realize

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In this atlas paper, the authors provide a transcriptomic and spatial taxonomy of myeloid cells in the central nervous system of mice and humans in health and pathology.

Abstract. Mitochondrial DNA of trypanosomatid parasites is organized into a topologically complex structure, named kinetoplast [kinetoplast DNA (kDNA)]. Re

Toxoplasma is a zoonotic parasite that can cause life-threatening illness in humans and animals. The similarities in Toxoplasma pathogenesis between pigs and...

Interpreting variants in recessive diseases is difficult because clinical severity depends on the combined function of both alleles. Deep mutational s…

Synthetic super-enhancers enable specific delivery of anticancer payloads, achieving tumour elimination after a single dose in a mouse model of aggressive glioblastoma.

Abstract. Safeguarding the genome from non-self-elements is essential for development, reproduction, and aging. One of the major threats to genomic integri

npj Precision Oncology - Germline haploinsufficiency of MUTYH causes mutational signature SBS18 in multiple tumour types and specifically raises colorectal cancer risk

Abstract. Artificial light at night (ALAN) disrupts natural light–dark cycles, posing ecological challenges for wildlife in urban environments. This study

A meta-analysis of plant nuclear genomic data provides fundamental insights into the genomic nature of differences between plant species and informs future strategies for DNA-based identification of p...

A parsimonious model of stem cell dynamics describes how DNA methylation changes arise and propagate with age, unifying diverse epigenetic aging patterns and suggesting that stem cell dynamics are a k...

Background While height is a highly heritable trait with strong polygenic prediction, previous studies have postulated that minimal variation of its individual differences can be captured by DNA methy...

Molecular Psychiatry - Association between polygenic risk for Major Depression and brain structure in a mega-analysis of 50,975 participants across 11 studies

Neutrophils infiltrate glioblastomas with the capacity to engage pro/anti tumoural responses. Here the authors developed proteomic workflows to stratify neutrophil heterogeneity by function. This work...

On-going community efforts aim to achieve a comprehensive genomic study of the entire family Drosophilidae. This study presents a comparative gene annotation for 301 species of Drosophilidae and find ...

Here the authors analyse genetic data for over 400,000 British and Irish people, showing that the frequency of the major genetic risk factor for haemochromatosis varies from a low of 1/212 in Southern...

Saturation genome editing of a cancer mutation hotspot in CTNNB1, the gene encoding β-catenin, reveals a gradient of effects of missense mutations on Wnt signaling.

Background Crustacean aquaculture is one of the most important food sectors globally and projected to grow. It is a source of nutritious and economic animal protein in many countries. As the global de...

Epigenetic clocks estimate biological age and health risks. Here, the authors compare 14 clocks in 18,859 individuals, showing second-generation clocks better predict disease incidence and mortality, ...

Major Depression (MD) is the most common psychiatric disorder. However, despite having a significant genetic component, the underlying biological mech…

The presence of more than two copies of the genome in an organism, termed ‘polyploidy’, is a crucial force in plant evolution, generating genetic, phenotypic and ecological diversity. [Correction ad...

Delirium is a sudden change in mental function that is common in hospitalized older adults. To better understand this serious condition, Raptis et al. analyze large-scale genetic and proteomic dataset...

Genome Biology - The development of genome sequencing techniques has revolutionized evolutionary biology, facilitating the study of adaptation and speciation at the genome level. Genomic data has...

Antifungal resistance in pathogenic fungi endanger global health and food supply. Wild-type fission yeast, Schizosaccharomyces pombe, can gain resistance to insults including caffeine and antifungal c...

Genome Biology - DNA methylation (DNAm) can regulate gene expression, and its genome-wide patterns (epigenetic scores or EpiScores) can act as biomarkers for complex traits. The relative stability...

Genes & Immunity - Discovery of core genes for systemic lupus erythematosus via genome-wide aggregated trans-effects analysis

Infectious diseases remain a major impediment to livestock production, negatively impacting both productivity and welfare. Where key interactions betw…

Mutations in the insulin receptor cause severe insulin resistance, but their functional impact is often unclear. Here, the authors map ~14,000 receptor variants, linking molecular defects to disease a...

Abstract. Capturing the physical organisation and dynamics of genomic regions is one of the major open challenges in biology. The kinetoplast DNA (kDNA) is

The United Kingdom is home to many local and rare livestock breeds. The local breed populations are highly adapted to specific environments in the Uni…

Highlighted Article: Neanderthal-specific non-coding variants increase the activity of a human disease-associated craniofacial enhancer proposed to impact SOX9 expression in a pool of progenitor cells...

Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lin...

Dr James Furniss is a Facility Manager at the Roslin Institute. Here talks about his work in the Genomics Platform Core Facility, and his career so far.

Bone marrow adipose tissue accounts for almost 10% of human fat mass, but its roles remain unclear. Here, Xu et al. identify more than 45 diseases linked to marrow adiposity in over 48,000 people, inc...

Gene deletions alter cellular physiology in complex and poorly understood ways. Here, authors present a machine learning strategy to predict the impact of metabolic gene deletions, offering top predic...

Summary. Population genetics seeks to quantify DNA variant associations with traits or diseases, as well as interactions among variants and with environmen

AbstractAims. Vascular calcification is the abnormal deposition of calcium phosphates within blood vessels. This condition is significantly associated with

Systematic comparison of genome-wide association results for disease risk and disease-specific mortality for nine common diseases across seven biobanks finds limited overlap between genetic effects on...

Background Structural variants (SVs) are genetic polymorphisms including deletions, insertions, inversions, and duplications, with potential to influence traits through impacts on gene function and ex...

The authors report a meta-analysis of methylome-wide association studies, identifying 15 significant CpG sites linked to major depression, revealing associations with inflammatory markers and suggesti...