Single Nucleotide Polymorphisms News and Research

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ddPCR and NGS for viral surveillance in antiviral drug development

hVIVO explains how ddPCR and NGS support viral surveillance in antiviral trials, from detection and quantification to resistance sequencing.

From hVIVO 20 Jul 2026

Australia’s diphtheria outbreak shows why boosters, antibiotics, and better housing all matter

A 131-case diphtheria outbreak in Australia’s Northern Territory showed how toxigenic Corynebacterium diphtheriae can re-emerge even in highly vaccinated populations. Genomic and epidemiological evidence linked most cases to a dominant ST381 strain, with transmission shaped by overcrowding, poor skin health, and persistent health inequities.

15 Jun 2026

New genetic tool tracks how bacteria spread between people

The research, published on April 24th, 2026, in Nature Microbiology, describes how the new tool, called TRAnsmision Clustering of Strains (TRACS), uses genomics to distinguish between closely related bacterial strains.

4 May 2026

Largest genetic study classifies 14 psychiatric disorders into five major groups

Although mental disorders have multifactorial causes, genetics can explain some of them, yet this field remains largely unexplored in terms of guiding diagnoses and treatments.

9 Mar 2026

Alternative splicing of DOC2A gene shown to drive schizophrenia risk

In an important new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia.

16 Jan 2026

Specific foods linked to autism risk via immune pathways

Genetic and clinical data suggest dietary factors may influence autism risk via immune pathways, highlighting the need for further research in this area.

14 Jan 2026

Genetic differences in surfactant proteins influence retinopathy of prematurity risk

A new study from the University of Oklahoma suggests that small genetic differences in two proteins – previously known for their role in premature infants' lungs – may also influence how their eyes develop, potentially affecting the risk of retinopathy of prematurity (ROP).

12 Dec 2025

Massive genetics study shows what truly separates and unites 14 psychiatric disorders

This large-scale genomic analysis of 14 psychiatric disorders shows that most heritable risk is shared across five broad genetic factors, with only limited disorder-specific variation. The study maps where risks converge or diverge biologically, revealing distinct cell type signatures and developmental pathways that may guide future diagnostic and therapeutic frameworks.

12 Dec 2025

11 genetic loci that shape impulsive decision-making

Researchers identify distinct genetic loci involved in delay discounting and how these variants are involved in physical and psychiatric health outcomes.

3 Dec 2025

Whole genome sequencing reveals how much human heritability we can finally explain

Whole genome sequencing in nearly 500,000 UK Biobank participants shows that observed rare and common variants now explain about 88% of family based heritability for many human traits. By partitioning heritability into rare versus common and coding versus non-coding components, the study narrows where missing heritability still hides and highlights traits that remain only partly understood.

13 Nov 2025

Obesity’s health risks shift with age and sex, new genetic study reveals

Using a new time-resolved Mendelian randomization approach in over 360,000 UK Biobank participants, Karlsson et al. revealed that the causal impact of obesity changes across life, with distinct age- and sex-specific risk patterns for diabetes, heart disease, atrial fibrillation, and osteoarthritis.

27 Oct 2025

Low-calorie diets linked to higher psoriatic arthritis risk, genetic study suggests

This Mendelian randomization study found that low-calorie diets may slightly increase the risk of psoriatic arthritis, while vegetarian and gluten-free diets showed no causal links to psoriasis, acne, or atopic dermatitis. The findings challenge assumptions about universally beneficial dietary patterns and highlight the need for cautious interpretation of dietary interventions in inflammatory skin disease.

19 Oct 2025

MRI age clocks reveal how each organ ages differently and predict who develops disease or lives longer

Researchers developed seven MRI-based biological age clocks across major organs using UK Biobank imaging, linking each to proteins, metabolites, genetics, disease risks, mortality, and cognitive decline. These organ-specific age gaps reveal how uneven aging shapes vulnerability to conditions such as diabetes, hypertension, and dementia, opening new paths for precision prevention and clinical trial stratification

19 Oct 2025

Scientists uncover 53 genetic clues that shape math ability beyond IQ

Researchers uncovered 53 genetic loci linked to quantitative ability, distinguishing it from general intelligence and non-cognitive skills. The study highlights brain pathways in axon guidance, synaptic signaling, and mRNA splicing as biological underpinnings of math-related ability.

22 Sep 2025

Genetic study shows dual GIPR/GLP1R action curbs binge alcohol use

Researchers used drug-target Mendelian randomization to test whether genetically proxied activation of GLP1R and GIPR influences alcohol-related behaviors. They found that GIPR, especially when combined with GLP1R, was linked to lower binge and heavy drinking, healthier food preferences, improved liver markers, and reduced coronary artery disease risk.

15 Sep 2025

Genetic variants influencing vitamin D synthesis, metabolism, and transport

A Canadian review synthesizes genetic factors that influence vitamin D synthesis, metabolism, and transport, highlighting how polymorphisms affect circulating levels. It also explores how gene-environment interactions shape individual responses to supplementation and sunlight.

20 Aug 2025

Epigenetic breakthrough: $200 blood test spots diabetes heart risk better than standard tools

Researchers have developed a blood-based DNA methylation risk score that predicts first macrovascular events in newly diagnosed type 2 diabetes patients more accurately than current cardiovascular risk tools. The score, when combined with clinical factors, could help target early prevention in high-risk individuals.

11 Aug 2025

Scientists map the genes behind diet and dementia risk

Researchers established a high-quality genetic dataset from the MIND diet trial, enabling new studies of gene–diet interactions in cognitive health. This resource allows deeper investigation into why individuals respond differently to dietary interventions targeting dementia risk.

6 Aug 2025

AI identifies novel gene variants linked to Alzheimer’s risk

This study reveals how machine learning models uncover new genetic variants linked to Alzheimer’s, advancing predictive accuracy in genetic epidemiology.

24 Jul 2025

Why vitamin B6 could raise the risk of hypoglycemia for people with diabetes

A large-scale Mendelian randomization study found no genetic evidence that vitamins A, C, or D reduce the risk of major diabetic complications. However, higher genetically predicted vitamin B6 levels were strongly associated with increased risk of diabetic hypoglycemia, warranting caution with supplementation.

8 Jul 2025