Articles tagged with Genetic Variation
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Researchers discuss a new approach integrating genomic, epigenomic, transcriptomic, and machine learning methods to identify functional genetic variants and characterize their mode of action in regulating target genes. This method aims to improve understanding of disease etiology and prioritize causative inherited genetic variants.
A novel workflow has been developed to identify patients with 5q-SMA, a common type of spinal muscular atrophy, more accurately. The new approach uses a bioinformatics pipeline that masks the paralogous regions of the SMN1 gene, allowing for more precise detection of genetic variants.
A new USC study reveals that variants of the autism-linked gene SYNGAP1 can disrupt early brain development in the cortex, a region involved in higher-order cognitive functions. The research found that disease-causing variants of SYNGAP1 alter the cells' cytoskeletons and lead to disorganized neural circuits.
Researchers have identified 451 genetic variants associated with prostate cancer risk through a comprehensive analysis of nearly 950,000 men. The findings improve the accuracy of genetic risk scores and may lead to personalized screening recommendations for men at higher risk.
A study of 2,458 children found that genetic predisposition to insomnia affects sleep patterns, including frequent awakenings and difficulty initiating sleep. The research suggests a lifelong 'poor sleeper' trait, emphasizing the importance of early recognition and prevention.
A new study analyzing lice genetic diversity found that head lice arrived in the Americas twice – once with early human migrants and again during European colonization. This discovery supports existing theories on human migration and provides insights into how lice have evolved alongside humans.
The study demonstrates that concurrent DNA and RNA sequencing improves the detection of novel variants in individuals undergoing hereditary cancer testing, expanding identification of those with hereditary cancer predisposition. This advancement enables personalized therapeutics and surveillance for these individuals.
The study has shed light on how cats evolved into different species and how genetic changes relate to survival abilities like smell detection. It also revealed that cat genomes tend to have fewer complex genetic variations than other mammal groups, such as primates.
Researchers developed a mouse model with human-like telomeres by making a single genetic alteration, providing a valuable resource for studying aging and cancer. The discovery highlights the importance of the RTEL1 protein in determining telomere length.
Researchers at Hokkaido University identified 2-thiouridine as a broad-spectrum antiviral drug candidate targeting ssRNA+ viruses. It inhibits viral replication and increases survival rates in mice models for dengue and COVID-19.
A study involving 119,606 Chinese newborns found that concurrent hearing and high-throughput genetic screening significantly enhances congenital hearing loss management. The detection rate of certain gene mutations was also reported, highlighting the importance of considering multiple factors for accurate diagnosis.
Researchers from the University of Virginia Health System have made significant discoveries about the genetic influences on fatty acid metabolism in diverse populations. The study found broad similarities among groups but also notable differences, highlighting the need for genetic studies in diverse groups.
A new AI tool named EVEscape can predict future viral variants of concern, potentially helping scientists develop more effective vaccines and therapies. The tool uses evolutionary and biological information to forecast which mutations will occur in viruses like SARS-CoV-2.
Researchers have developed STARVar, an artificial intelligence-powered method that leverages diverse data sources to identify genetic variants associated with diseases. The tool prioritizes genomic variants based on real-world patient symptoms, providing a more nuanced understanding of clinical presentations.
Researchers discovered that people carrying three Neanderthal gene variants in the SCN9A gene are more sensitive to certain types of pain. The study found an association between the variants and a lower pain threshold in response to skin pricking after prior exposure to mustard oil.
Researchers identified a circulating tumor DNA (ctDNA) biomarker that can predict disease recurrence and response to treatment in patients with BRAF-negative melanoma. The study found that measuring ctDNA levels and variants can help tailor therapy and improve patient outcomes.
A genome-wide association study reveals 34 genes potentially involved in choosing a vegetarian diet, including those related to lipid metabolism and brain function. The findings suggest that genetics play a role in the ability to subsist on a vegetarian diet.
Researchers from The University of Queensland and The Alfred hospital in Melbourne have identified gene variants associated with a higher risk of nodular melanoma. The study found that four genes with rare DNA variants were linked to the aggressive subtype, which accounts for most melanoma deaths.
A study published in The Lancet Oncology reveals a genetic explanation for increased second-cancer risk and mortality among childhood cancer survivors. The research identified specific genes associated with this increased risk, enabling personalized cancer screening and prevention strategies.
Research reveals that female fruit flies pre-select for males with superior genes before influencing sperm storage to ensure compatible fertilization. The study provides new insights into the mechanisms and consequences of mate choice, shedding light on genetic variation and species evolution.
Five lung stem cell variants dominate CF lungs, causing inflammation, fibrosis, and mucin secretion. CFTR modulators fail to suppress these inflammatory variants, suggesting they as key targets for new drugs.
A new study reveals that consanguinity may increase the risk of common diseases such as type 2 diabetes and post-traumatic stress disorder. The research analyzed genomic data from diverse groups to investigate the relationship between autozygosity, or genetic relatedness, and disease prevalence.
Despite high levels of inbreeding, the Svalbard reindeer population has developed adaptations to thrive in extreme Arctic conditions. Researchers found that inbreeding may help eliminate harmful mutations, leading to a viable and genetically resilient population.
A study using engineered mice found that BA.5, a contagious omicron subvariant, replicates rapidly early during infection, causing significant weight loss and high levels of inflammatory cells and cytokines in lungs.
Scientists have identified thousands of non-coding genetic variants linked to Alzheimer's disease, focusing on their impact on microglial gene expression and function. The study found that turning off specific regions can affect multiple genes, highlighting the complex mechanisms underlying AD.
A recent study published in Nature Communications has identified five rare genetic variants associated with male-pattern hair loss. The researchers analyzed the genetic sequences of 72,469 male participants from the UK Biobank project and found associations between rare variants in genes such as EDA2R, WNT10A, HEPH, CEPT1, and EIF3F.
Researchers at Monell Chemical Senses Center identified genetic markers that can predict a child's reaction to sweetened medicine. These findings suggest that tailoring medications to individual tastes could help prevent unintentional poison exposures among children under six years old.
A Geisinger-led study found that knowing the genetic cause of high cholesterol increases heart disease risk more than having high cholesterol levels alone. The study used UK Biobank data and observed distinct differences in heart disease rates among participants with different genetic causes.
Researchers have identified 439 genetic variants that regulate gene expression and may contribute to the development of schizophrenia. This discovery could pave the way for more precise interventions and therapies by providing insights into the complex genetic architecture underlying the condition.
A new SARS-CoV-2 variant Eris has been detected, showing an advantage in evading neutralizing antibodies and increasing infectivity. The study found that Eris is less effectively neutralized by antibodies present in the blood of vaccinated individuals or those with a previous infection.
A recent study published in Cell found that genetic variants can influence the risk of cardiovascular disease by interacting with environmental factors. For example, carriers of certain sequence variants are protected against the negative effects of alcohol consumption on coronary artery disease.
A new study published in Genome Biology analyzed the genomes of 2000 dogs from 321 breeds, revealing 25 major groups that match expected breed origins. The research found significant genetic variation among breeds, with wolves exhibiting 14% more variation than dogs.
Researchers at Pitt Public Health analyzed thousands of human genomes to find new gene variations influencing Alzheimer's disease risk. They identified 15 additional variations in the APOE gene and other genome areas that may influence disease risk, although more research is needed for definitive conclusions.
Research from Aarhus University suggests that smoking may increase the risk of depression, bipolar disorder, and schizophrenia by 250 percent. The study analyzed genetic data from over half a million people and found that certain genetic variants linked to smoking also contribute to mental illness.
The study validates a comprehensive genomic profiling assay, NeXT Dx, which detects single nucleotide variants, indels, copy number alterations, and gene fusions. The assay demonstrates high analytic sensitivities and specificity, providing personalized recommendations critical to clinical decision-making.
New SARS-CoV-2 variants, such as BQ.11 and XBB.1.5, bind to cells more tightly and evade antibodies more efficiently than earlier variants, allowing reinfections and breakthrough infections. Previous infection or vaccination can generate antibodies that recognize some proteins on newer variants, reducing the risk of serious illness.
A team of scientists has generated and analysed 2000 canine genomes, creating a toolkit for answering complex biological questions. The study reveals genetic diversity in breed morphology, behaviour, and disease susceptibility, as well as the structure of the genome.
A new study has identified thousands of shared genetic variants between patients with irritable bowel syndrome (IBS) and psychiatric disorders such as bipolar disorder, schizophrenia, depression, and anxiety. This discovery provides a new understanding of the brain-gut axis and holds promise for developing effective treatments for IBS.
A computational genetic model has been developed to predict individual genetic risk of developing breast cancer based on a woman's genetic profile. The model uses data from a large-scale international study and identifies women at high risk, who may benefit from earlier and more frequent screening.
A new study has identified four genetic variants associated with the direction of human scalp hair whorls, revealing a polygenic inheritance pattern. The findings may help unravel biological processes related to abnormal neurological development.
Researchers found that African ancestry patients with dilated cardiomyopathy have fewer clinically actionable variants in DCM genes compared to European ancestry patients. The study enrolled 1,198 patients with dilated cardiomyopathy, revealing a racial imbalance in genetic trials for heart failure.
A new study revealed that people in the UK have facial skin with more DNA damaged from the sun than those in Singapore, leading to a higher risk of developing keratinocyte skin cancers. This is despite lower UV light exposure levels in the UK.
A genetic variant has been identified that may explain why some people of African ancestry have naturally lower viral loads of HIV, reducing their risk of transmission and slowing disease progression. This discovery could lead to the development of new treatments for those living with HIV.
Researchers identified five genes influencing BMI in women and two in men, with faulty variants of three genes linked to higher BMI in women. Age-specific factors also emerged, with genes OBSCN and MADD associated with childhood body size and fat.
Researchers have discovered a 'cheating' strategy used by an insect in New Zealand to avoid being eaten. The Zelandoperla fenestrata stonefly mimics the appearance of a cyanide-producing species to deter predators. However, this strategy may not be effective in regions where the toxic species is rare, and can backfire if the mimicry st...
A new multi-center study found that having a genetic variant in the prealbumin gene alone is not sufficient for diagnosing transthyretin amyloid cardiomyopathy in older Black patients. Researchers suggest that a blood test measuring prealbumin levels may be useful in identifying patients at risk of developing cardiac amyloidosis.
The Oregon Health & Science University team's free genetic screening program for adults has screened over 13,000 residents since 2018. The study found that 710 participants carried disease-causing variants, highlighting the importance of genetic counseling and expanded gene testing.
Researchers found a genetic link that explains how certain individuals store fat at the abdomen but remain protected from type 2 diabetes. This discovery could pave the way for personalized medicine, tailoring treatments to individual genetic variations.
Researchers identified 12 rare genetic variants associated with QT interval prolongation, increasing the risk of severe heart rhythm abnormalities and sudden cardiac death. These variants can lead to a more precise clinical approach through improved identification and risk stratification, aligning with precision medicine principles.
A study by the University of Essex found that top performers had a specific combination of 19 gene variants linked to running performance, resulting in an average improvement of 11.5% after just eight weeks of endurance training. Despite having the same training, those without these genetic markers showed little or no improvement.
A study led by UCSF researchers discovered that people who remain asymptomatic after contracting COVID-19 often carry a specific gene variation that helps their immune system recognize the virus. This mutation, HLA-B*15:01, is common among asymptomatic individuals and can also help those with symptoms to recover more quickly.
A study published in Nature Medicine found that genetic variants associated with autism are present in 4% of those with autism and 1% of the general population. These variants were linked to poorer cognitive performance, lower socioeconomic status, and educational level in undiagnosed individuals.
Researchers from Sanford Burnham Prebys have identified new genes that contribute to hypoplastic left heart syndrome (HLHS), a rare and life-threatening heart disease. The findings, published in eLife, bring scientists one step closer to unraveling the biology of this complex disease.
Researchers at UCLA Jonsson Comprehensive Cancer Center confirmed genetic variants of unknown significance are verified mutations that increase the risk of kidney cancer. The findings could lead to new treatment options for people with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Research by Professor Björn Schumacher investigates the role of male germ cells in genetic mutations. The study suggests that paternal DNA damage can lead to faulty repairs in the genome, resulting in structural variants.
A novel association of t(5;17) with t(8;21) has been reported in an acute myeloid leukemia (AML) patient, resulting in a RUNX1-RUNX1T1 rearrangement. The patient received chemotherapy and stem cell transplantation, highlighting the importance of this rare translocation.
Researchers found a correlation between somatic copy-number variants and schizophrenia, with genes NRXN1 and ABCB11 being identified as key players. These mutations occur early in development but after genetic material is inherited, and are present only in a fraction of cells.
A recent study has elucidated the genetic factors involved in systemic lupus erythematosus (SLE) development. The researchers found that HLA-DRB1*15:01 is primarily associated with SLE development in the Japanese population, suggesting its role in influencing disease progression. Furthermore, the study highlights the importance of anal...
A large international collaboration has identified a genetic variant associated with faster disease progression in multiple sclerosis, highlighting the need to focus on nervous system resilience and repair. The study found that individuals with two copies of the gene variant experience accelerated disability due to MS.
Researchers discovered a genetic variant associated with faster disease progression in multiple sclerosis, linked to years of disability. The study provides new leads on addressing the nervous system component of MS and developing effective treatments.