Articles tagged with Genetic Analysis
Researchers developed EvoD to sift meaningful variants from thousands of mutations in personal genomes, improving diagnostic accuracy. The technique capitalizes on comparative genomics and exome analysis, showing promise for detecting functionally damaging gene variants associated with Mendelian diseases.
The Cancer Genome Atlas study identifies four main breast cancer subtypes defined by PAM50, with diverse genetic and epigenetic alterations converging into these phenotypes. The study's findings advance understanding of breast cancer biology and support the use of PAM50 as a gold standard for categorizing breast cancer by subtype.
Researchers have developed a new analysis framework to help clinicians spot 'medically actionable findings' from genetic tests, streamlining the process and providing more timely results. The approach classifies genetic variations into three categories, prioritizing those linked to treatable or preventable conditions.
Studies show that some structural features of languages are relatively stable over time, while others exhibit individual family-specific factors. Researchers found probable connections between the Americas and NE Eurasian languages dating back to peopling of the Americas 12,000 years ago.
Researchers at Whitehead Institute identified four genetic markers that predict pluripotency in single cells, allowing for more efficient reprogramming. The team also discovered six new combinations of factors that activate Sox2, leading to full reprogramming and potentially healthier iPSCs.
The Innocence Project has helped free nearly 300 wrongfully convicted prisoners due to improper use of forensic science. Improved sensitivity in DNA testing has highlighted issues of cross-contamination, affecting accuracy.
The ENCODE project reveals a massive control panel in the human genome, with 4 million gene switches, to regulate gene expression and prevent disease. The comprehensive data will help researchers pinpoint specific areas for human disease research.
The study suggests that three-quarters of the human genome can be transcribed into RNA, leading to a redefinition of what defines a gene. This implies that many regions previously thought to be non-functional may have functional roles.
Researchers at UC Riverside have developed a test called CTAB, which examines how DNA modifications lead to aberrant transcription and disruption in protein synthesis. The method could help explain how environmental chemicals cause cancer development and lead to the development of new effective drugs.
A new genetic analysis maps the Jewish Diasporas, focusing on North African Jews. The study supports historical records of Middle Eastern Jews settling in North Africa and forming distinct populations.
Researchers at Wayne State University are working on a new technique to analyze fetal chromosomes in the first trimester, which could lead to healthier outcomes for mothers and babies. The approach involves collecting placental cells from the cervix using a safe and non-invasive method.
Researchers at Michigan State University have developed a computational technique that reduces memory requirements by 40-fold, allowing scientists to analyze large genomic sequence datasets without supercomputers. This breakthrough enables the efficient examination of complex microbial communities living in soil or the ocean.
A new study reveals that Native-Americans' high rates of diabetes may be attributed to their ancestors' high-fiber diet, which was rich in foods like maize and sunflower seeds. This diet, characterized by low fat and glycemic index, could have given rise to 'thrifty genes' that now contribute to the disease.
A team of scientists has discovered an epigenetic enzyme that doubles the output of thousands of different genes in male fruit flies to compensate for their single X chromosome. The study found twice as many DNA-transcribing proteins attached to the male X chromosome compared to females.
The Iberian wolf's distribution in Galicia is primarily driven by landscape characteristics offering refuge from humans. Landscape attributes account for 48% of animal safety, while human presence and food availability contribute to a lesser extent.
23andMe's acquisition of CureTogether expands its capacity for people-powered research and community-driven projects. The combined platforms will facilitate the sharing of genetic and phenotypic data to accelerate research discoveries.
Researchers found that parasitic plant Rafflesia cantleyi has 'stolen' genes from its host Tetrastigma rafflesiae, including those related to respiration and metabolism. This horizontal gene transfer has replaced the parasite's own gene activity in three-quarters of the cases.
Researchers have identified three types of fetal cells in maternal organs: trophoblasts, mesenchymal stem cells, and immune system cells. These cells may help the mother's immune system tolerate the fetus and aid in organ repair.
Researchers successfully sequenced the fetal genome without invasive sampling, enabling the detection of thousands of disorders. They overcame obstacles by applying statistical modeling and technical advances to resolve maternal haplotypes with high accuracy. The breakthrough paves the way for comprehensive prenatal genetic screening.
An interdisciplinary team has completed the most comprehensive genetic analysis of corn, shedding light on its genetic diversity and evolution. The study provides a foundation for developing improved varieties equipped to resist pests and disease, addressing global food security challenges.
Scientists have developed a method to analyze noisy X-ray data, revealing details of molecular structure previously discarded due to low signal quality. This breakthrough could lead to more accurate models and improved understanding in biology, medical diagnostics, nanotechnology and other fields.
Two studies led by University of Pennsylvania scientists uncover new information about Native American and First Nations migration patterns, genetic impact of cultural practices and historical relationships among groups. The research provides the first clear evidence of shared markers in DNA of people living in the circumarctic region.
Scientists have found a 60-million-year-old giant turtle with a shell measuring 172 centimeters long, making it one of the largest turtles ever discovered. The turtle's massive size allowed it to thrive in its ecosystem, where other giant reptiles like snakes also existed.
A Stanford University School of Medicine study has identified a homegrown genetic variant responsible for naturally blond hair in the indigenous people of the Solomon Islands, distinct from European genes. The research found that the gene variant accounted for 50% of the variance in hair color among the islanders.
A new method developed by the University of Copenhagen allows researchers to track mammal species in Southeast Asian rainforests using DNA-analysis from collected leeches. The technique has been successfully tested on local Vietnamese mammals, including rare species, and could revolutionize the monitoring of threatened wildlife.
The study reveals that roads cause significant harm to midwife toad and palmate newt populations in Asturia, Spain. The results suggest that traffic alleviation measures can help protect the newts but are insufficient for the midwife toads.
A new study finds that many species of reef-building corals can adapt to warming waters by relying on multiple algal symbionts. This ability may help corals survive future losses due to ocean temperatures increases.
A Mayo Clinic study identified two genes that are optimal targets for a new noninvasive colon cancer test, developed by Mayo Clinic and Exact Sciences Corporation. The test uses stool sample analysis to detect specific DNA changes associated with cancer development.
Researchers reveal a genetic mutation behind the distinctive double-flowered sunflowers depicted in Van Gogh's paintings, which has been hidden for over a century. The study identifies a disrupted gene responsible for creating the mutated trait.
Biobank researchers emphasize the need for defined systems to handle incidental findings and individual research results, aiming to ensure patient safety with genomic technologies
Researchers analyzed 100,000 molecular components from a patient's genome, revealing genetic risks and biomarkers for diseases. The study provides insights into the correlation between individual genetic profiles and environmental interactions in disease development.
Scientists discover new leopard frog species in New York City's Staten Island ponds and marshes, identified through DNA analysis. The unusual species has a distinct genetic lineage, separate from other leopard frog species in the region.
Research reveals that some Scandinavian conifers survived the harsh ice age climate in small ice-free pockets for tens of thousands of years. The study found two distinct types of spruce trees with different histories, which could have economic significance for tree plantation owners.
A new DNA-based method analyzed genetic material from 81 fecal samples, showing that most snow leopards ate wild animals (79%), with a relatively low proportion of domestic livestock (19.7%). The study aims to inform conservation strategies for the endangered species.
Researchers Elizabeth Archie and Patrick Chiyo investigate elephant social behavior, finding strong female bonds and male crop raiding patterns. Their fieldwork and genetic analysis reveal how human activities alter elephants' social and genetic structures, threatening the species' survival.
A pilot study shows promise for analyzing bladder pain syndrome by analyzing cells shed into the urine, providing a noninvasive alternative to bladder biopsies. The results show distinct gene signatures for inflammation in patients with Hunner lesions, similar to those found in previous studies of bladder biopsies.
Scientists at the University of Leeds create a biosensor technology that can detect Adenovirus viruses, identify individual strains, and count virus particles. This breakthrough could lead to faster, simpler, and less costly testing for viruses, ultimately benefiting patients.
A recent large and comprehensive analysis of 50,000 genetic variants has identified four genes associated with type 2 diabetes and six independent disease-associated variants at previously known loci. The study provides valuable insight into the genetic risk for T2D across multiple ethnicities.
Researchers have developed a statistical model to quantify the weight of fingerprint evidence, paving the way for its full use in courts. The current method relies on subjective certainty, not supported by logic or data.
Researchers at Kimmel Cancer Center found that cyclin D1 overexpression associates with chromosomal instability in luminal B breast cancer. Elevated levels of cyclin D1 promote genetic breakdown known as chromosomal instability, which correlates with this subtype.
A global survey aims to capture public attitudes towards sharing genomic results, with implications for genetic research and healthcare. Participants will provide their views on the ethics of genetic testing and data sharing.
Scientists discovered a new link between mutations in an evolved gene module and syndromic autism, specifically Joubert syndrome. The study found that alterations in cellular primary cilia led to malformation or underdevelopment of the cerebellum and brainstem.
A study by UT Dallas criminologist Dr. J.C. Barnes found that genetic influences play a larger role in life-course persistent offending than environmental factors. For adolescent-limited offenders, environmental factors were more prominent.
Aria Diagnostics published peer-reviewed data for a new noninvasive prenatal test that accurately detects Trisomy 21 and Trisomy 18 with improved efficiency. The technology offers significant improvement over existing approaches, enabling cost-effective and scalable analysis of cell-free DNA in maternal blood.
A team of Yale researchers found genetic signatures of the extinct species Chelonoidis elephantopus in over 1600 tortoises, suggesting direct descendants may still exist. The discovery could allow for the resuscitation of the species through intensive breeding of hybrids.
Researchers used nanoCAGE technology to identify precise transcription start sites for over 900 olfactory receptor genes in the mouse main olfactory epithelium. The study found hundreds of non-coding RNAs associated with olfactory receptors, suggesting their potential role in regulation.
Researchers at Michigan State University used advanced DNA testing to confirm the presence of brucellosis in skeletal remains from medieval Albania, suggesting the disease was endemic in the region since the Middle Ages. The findings provide valuable insights into the history of infectious diseases and their impact on human health.
Scientists found that the Nile crocodile is not a single species but rather two distinct species living side-by-side. The discovery highlights the need for separate conservation strategies for each species due to their unique characteristics and declining populations.
The POBASCAM trial found HPV testing to be more sensitive and effective at detecting precancerous lesions, with fewer high-grade cervical lesions and cervical cancer in the second round of screening. HPV testing can lead to earlier detection and treatment of lesions, improving protection against cervical cancer.
Scientists at Johns Hopkins have found that PARP inhibitors can block the ability of pre-leukemic cells to repair broken DNA, leading to their self-destruction. The treatment has shown promise in clinical trials for patients with aggressive myeloproliferative disorders.
Researchers obtained full DNA profiles from eight backpacks containing pipe bombs and matched them with volunteers who handled the bags for a week. This method, called consensus profiling, can help rule out DNA traces from others.
Researchers at the University of Utah have identified a gene associated with frequent herpes-related cold sores. The C21orf91 gene is linked to susceptibility to HSL, and variations in this gene may predict or prevent cold sore outbreaks.
New research published in BMC Research Notes found that snow leopards in the central Himalayas have a much lower population size than previously estimated. Genetic analysis of snow leopard scat samples revealed only 19 out of 71 original samples were actually P. uncia, with most coming from nine individuals.
Researchers chart gene expression in human brain from fetal development to aging, revealing coordinated changes that shape brain structure and function. The study found reversible gene expression changes after birth and during Alzheimer's disease, with distinct patterns of change at different life stages.
A massive study found hundreds of genetic differences between males and females as their brains develop in the womb. Genes associated with psychiatric illnesses are expressed before birth, suggesting a complex link between genetics and mental health.
Researchers find that the brain's responses to movies reveal a detailed code that is the same for all individuals. A new method called hyperalignment allows activity patterns in one individual's brain to be decoded by comparing them to patterns in other people's brains.
The study replicated approximately 75% of the expected associations, demonstrating high-quality findings from self-reported data. 23andMe's web-based platform enables researchers to investigate hundreds of genetic factors in dozens of diseases efficiently and cost-effectively.
Gordon, a high-performance supercomputer using large amounts of flash-based SSD memory, is being made available to US academic researchers. The system will handle massive databases with up to 100 times faster speeds than traditional hard drive disk systems.
A new study published in The Journal of Molecular Diagnostics has demonstrated the feasibility of focused fetal gene expression analysis of target genes found in amniotic fluid. The analysis could be used to monitor fetal development and determine whether fetal organ systems are developing normally.
Researchers use Fourier transform infrared-attenuated total reflection spectroscopy to identify infected trees with 95% accuracy. The method is faster and cheaper than current DNA testing, but further differentiation between diseases is needed.