Hidden Genetic Burden: Three Rare Diseases Shape Child Health in Nunavut
A genomic study of nearly 3,000 Nunavut newborns reveals that three autosomal recessive conditions, including congenital sucrase-isomaltase deficiency at one ...
Tag: Genetic variants
Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
Four Gene Variants Stack the Odds of Metabolic Syndrome in Brazilian Adults
A study of 420 Brazilian adults links variants in ADRB3, LEPR, FTO and PPARG to metabolic syndrome and shows that ...
A Flawed Genetic Reference Could Trigger False Alarms in Whole-Genome Screening
Researchers at Semmelweis University show that the standard human reference genome can cause automated whole-genome analyses to flag healthy individuals ...
Genes and Epigenetics Converge to Explain Sudden Cardiac Death Without Family History
A new review maps how common genetic variants, insertion/deletion polymorphisms, microRNAs, DNA methylation and histone modifications together shape the risk ...
Duck Genome Study Reveals Master Genetic Switch Behind Fat Deposition
A multi-omics study in ducks has uncovered a selected distal enhancer that remotely controls the ADM gene through SMAD2 recruitment, ...
Trio Exome Sequencing Reveals Genetic Clues to Autism in Rwandan Children
A trio-based whole-exome sequencing study of Rwandan children with autism has identified rare pathogenic and uncertain variants in nearly a ...
Ancient wheat and barley genes may hold the key to climate-proof crops
Researchers reconstructed 200-million-year-old ancestral plant genomes to identify gene variants retained by wheat and barley that could guide breeding of ...
Environmental Stress May Have Loosened DNA Repair Rules on the Y Chromosome
A new hypothesis proposes that prolonged environmental stress in the ancient southern Levant transiently relaxed DNA repair constraints in one ...
Unraveling the Mechanisms Behind Behavioral Side Effects of Common Weight Loss Medications
Glucagon-like peptide 1 receptor agonists, commonly known as GLP1RAs, have emerged as significant pharmacological agents in the management of type ...
-
Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
-
University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
-
Bee body mass, pathogens and local climate influence heat tolerance
-
Researchers record first-ever images and data of a shark experiencing a boat strike
-
Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
Embark on a thrilling journey of discovery with Scienmag.com—your ultimate source for cutting-edge breakthroughs. Immerse yourself in a world where curiosity knows no limits and tomorrow’s possibilities become today’s reality!