A study published in the American Journal of Medical Genetics found that medical care costs for children with Down syndrome are less than $100 a month higher than those for typically developing children. The average monthly cost difference is lower when the child is older, ranging from $537 a year for children aged 13-18.
Researchers used whole exome sequencing to analyze nearly 7,400 patients, identifying a genetic cause in 28 percent. The study shows that multiple genes can be involved in complex diseases, leading to imprecise diagnoses. A unified analysis combining clinical and genetic features provides more precise diagnoses.
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The study used DNA barcoding to identify insects from Malaise trap samples, assigning species names to 35% of specimens. The workflow for semi-automated identification was efficient, but coverage gaps remain, particularly for Diptera and Hymenoptera.
The Structural Biology and Biocomputing Programme at CNIO has contributed to the BLUEPRINT project, a major European initiative studying the human epigenome. The project has generated a large volume of epigenomic data, which is now accessible for research, facilitating new ways to diagnose and treat diseases.
Insilico Medicine developed a novel tool, iPANDA, to derive new insights from gene expression repositories. The method combines precalculated gene coexpression data with gene importance factors for obtaining pathway activation scores, producing highly consistent sets of biologically relevant biomarkers.
A study found that a gene regulating bone growth is highly active in the brains of humans and nonhuman primates, but not in mice. The researchers believe this gene may play a role in brain maturation and cognitive function.
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Researchers at Columbia University developed a new machine-learning algorithm called TeraStructure to analyze massive genetic data sets. The algorithm can estimate population structure more accurately and twice as fast as current state-of-the-art algorithms, making it potentially useful for identifying disease-causing genetic mutations.
In a lab-based test using the Ames assay, scientists found that e-cigarette vapour did not cause DNA mutations in bacteria, unlike tobacco smoke. The results suggest that e-cigarettes may be less harmful than cigarettes, supporting growing evidence of their potential as a safer alternative.
The leaf-mining pygmy moths and white eyecap moths have a rich evolutionary history that dates back to the early Cretaceous period, around 100 million years ago. A new classification system has been established based on DNA analysis, revealing three new genera in South and Central America.
A new whole-genome analysis reveals that chimpanzees and bonobos had a historical genetic flow, which sheds light on processes that may have played a recurring role in great ape evolution. The study found evidence of gene flow between the two species between 200-550 thousand years ago.
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A VIB and Ghent University research team has identified key genes that enable plants to respond to drought stress. These core genes play a pivotal role in a plant's defense mechanism against drought, allowing for advanced breeding and genome engineering efforts to create drought-tolerant crop plants.
Researchers found that adding NIPS for fetal chromosomal abnormalities to the current prenatal testing strategy in Quebec would reduce the number of amniocentesis procedures performed by about 90 percent. The Serum Integrated option, followed by NIPS for women at high risk, was the most cost-effective approach.
A set of all-female hybrid greenling fish has boosted its long-term survivability by switching from one mating species to another. This 'host switch' occurred approximately 2,000 to 20,000 years ago and is thought to be a reason for the hybrids' extended survival.
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A new non-invasive test measures donor-derived cell-free DNA in plasma to monitor transplant recipients and detect rejection. The assay has shown promise in reducing complications and rejection, improving outcomes for heart transplant patients.
A recent archaeological analysis has found that early settlers of Tonga and Vanuatu originated from Melanesia, challenging the long-held assumption about the colonization of the region. The research team's findings point to a previously unknown migration wave from the Solomon Islands chain.
The National Science Foundation is funding a project to develop non-destructive analysis of plant leaves in breeding lines, enabling rapid screening of breeding materials. The goal is to produce higher-indicin yielding breeders seed stock, increasing the cost-competitiveness of plant-derived indigo dye.
A substantial proportion of birth weight variation is attributed to genetic differences, with some 1/6th of the difference being due to genetics. The study also found a link between genetic differences in early growth and increased risk of adult diseases.
Scientists have reclassified giraffes into four distinct species based on genetic analysis, revealing new insights into their biology and conservation needs. The study highlights the urgent need for protection efforts to safeguard these endangered animals in Africa.
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A new study has identified four highly distinct groups of giraffe, each with its own genetic profile, indicating they should be recognized as four separate species. The researchers hope this discovery will lead to targeted conservation efforts for the endangered species.
A commonly used cell line, U87MG, was found to have a different DNA profile than the original tumour it was established from. Genetic analysis revealed that the cell line likely originated from a human glioma tumour, highlighting the need for proper identification of cultured cells.
Researchers developed an algorithm to analyze single-cell sequencing data, revealing the genetic control of blood cell formation. The 'diffusion pseudotime' method orders cells on a virtual timeline, reconstructing developmental paths and gene expression sequences.
A research team from Hokkaido University suggests the Cuban solenodon family evolved around 59 million years ago, long after the dinosaur extinction. The species diverged from its ancestor and then traveled to Cuba via water, contradicting earlier theories.
A new study by a UC Santa Barbara researcher reveals that Latinos age at a slower rate than other ethnic groups. The findings, published in Genome Biology, may one day help scientists understand how to slow the aging process for everyone.
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A new Kyoto University DNA test can identify disaster victims and confirm relatedness between distant relatives like second cousins with nearly 100% accuracy using a simple swab sample.
The American Gastroenterological Association (AGA) has launched a new PatientINFO Center to provide high-quality, readable information on colorectal cancer. The center addresses gaps in existing resources, offering detailed information on screening options, risk factors, and prevention strategies.
A study led by a Michigan State University criminologist reveals that female forensic scientists face higher stress levels than males, with 78% reporting mid to high levels of job stress. Despite overall job satisfaction, scientists who testified more often in court and worked longer hours were happier with their jobs.
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A new gene expression analysis method, GlobinLockTM, overcomes technical bias in blood sample analysis caused by erythrocytes, allowing for more effective biomarker identification. The patented assay minimizes reagent and sample material needs, making it a robust tool for biotechnology companies.
A new approach uses computational tools and machine learning to compare patients' genomes to existing gene databases, accelerating diagnosis in rare genetic diseases. Comparing patient genes to their parents' also helps identify new disease-causing mutations.
Researchers have created low-cost and sensitive assays to analyze Fragile X-related disorders, enabling preclinical and clinical research on this genetic mutation. The new tests can detect even small changes in DNA methylation and may be suitable for initial patient screening.
Researchers create technique to identify pairs of short DNA sequences from beef, buffalo, and pork in hot dogs, providing a more reliable approach than existing methods. The study found that all 'beef' hot dogs contained buffalo meat, highlighting the need for accurate food testing.
A multi-disciplinary team analyzed the Piltdown specimens using DNA and 3D X-ray imaging, revealing that an orang-utan specimen was used to create the fakes. The forgeries were created using a consistent method, suggesting the perpetrator acted alone, with some researchers now accusing Charles Dawson of being the 'lone forger'.
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Using cutting-edge eDNA technology, researchers from James Cook University successfully identified largetooth sawfish habitats in the Daly River, Northern Territory. The technique was mostly accurate in waterholes but disappointing in flowing rivers, with limitations yet to be overcome.
Researchers found genetic connections between European settlers and farmers in Central Turkey, tracing back to the late Stone Age. The study suggests that farming knowledge spread from Turkey to Europe through human migration and cultural exchange.
Researchers used assortativity to analyze DNA interactions and identify proteins mediating chromatin contact networks. This approach helps understand genome organization and its relationship with gene expression regulation.
Scientists discovered 15 genome sites linked to depression in European ancestry, regulating gene expression and new neuron birth. Using crowd-sourced data, they detected weak genetic signals associated with depression, supporting a novel approach to complement traditional methods.
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A DNA study of New Zealand's acanthisittid wrens has provided evidence that the country was not completely submerged under the ocean around 21 to 25 million years ago. The research found divergences among the species, suggesting they have been resident in New Zealand for over 25 million years.
A new study published in Proceedings of the National Academy of Sciences analyzed DNA from five different mouse lemur species to understand Madagascar's past. The analysis revealed that the island was once linked by a patchwork of forested areas, enabling mouse lemurs to disperse over tens of thousands of years between different regions.
A team of scientists at Helmholtz Munich developed a protocol to analyze metabolite composition in fixed tissues using mass spectrometry imaging. This method allows for the study of spatial distribution of molecules with high precision, enabling the identification of new predictive, diagnostic and prognostic markers.
Researchers from Scripps Florida have discovered a link between bipolar disorder and the striatum, a brain region involved in motor planning and reward perception. The study identified 14 genes differentially expressed in bipolar patients compared to non-bipolar controls, suggesting a causal role in the disorder.
A new high-resolution method allows analysis of all RNA molecules and provides spatial information, enabling precise identification of tumor cells and studying gene activity with greater resolution than ever before. This innovation has valuable applications for both preclinical research and cancer diagnostics.
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A Japanese research team has discovered four new genes in rice that could significantly improve crop breeding and help address global food shortages. The newly identified genes, found through genome-wide association studies (GWAS), influence traits such as flowering date, panicle number, and grain yield.
Researchers at University of Illinois have identified candidate genes controlling the accumulation of phenolic compounds in broccoli, which are associated with a lower risk of coronary heart disease and certain cancers. Breeding broccoli with mega-doses of these compounds may lead to improved health benefits.
A study by Colorado State University researchers reveals that tropical mayflies have a higher number of distinct species than their temperate-zone counterparts. The distinctions between these species consist of subtle, genetic differences that aren't readily visible to the naked eye.
Bioluminescence has evolved independently 27 times in 14 major fish clades, underscoring its importance to vertebrate fish in the deep seas. The phenomenon is found throughout the ocean and is used for signaling, camouflage, and species recognition.
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Researchers analyzed genetic data from 3,726 African-Americans to estimate patterns of ancestry, finding that 82.1% had ancestors in Africa prior to transatlantic travel. The study reveals regional differences in ancestry, with southern US residents having a greater percentage of African ancestry than those in the North or West.
A series of studies identified a gene called ANK3 as playing a key role in affecting longevity. Higher levels of ANK3 expression were found in older patients with psychiatric disorders and those who had committed suicide.
Researchers at the University of Leeds discovered a key gene, ANR, that enabled plants to tolerate extreme dehydration, allowing them to colonize land around 500 million years ago. The gene is unique to basal land plants and plays a crucial role in responding to stress hormones like ABA.
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Researchers at ANU tested breeding habits of fish to disprove theory that larger genitals make males more attractive or successful in fathering offspring. They found females don't find bigger genitals more attractive, contradicting previous studies and human research.
SPARK, the nation's largest autism research study, aims to collect data from 50,000 individuals with autism and their families to accelerate research and discovery. The study, led by Children's Hospital Colorado, will utilize web-based registry and DNA analysis to improve understanding of the causes of autism and develop new treatments.
New study reveals an Ice Age refugium in Arabia, potentially on the Red Sea plains, and suggests modern humans inhabited the region for up to 10,000 years. The findings challenge previous theories that humans did not settle in large numbers until agriculture developed around 10-11,000 years ago.
A genome-wide association analysis of over 1,000 UK twins found that some parts of the microbiome are inherited through genes. The study identified more than a dozen microbes with known links to health that are heritable.
Researchers discovered that African trypanosomes use repetitive 70-bp regions to select new coat protein genes from an archive, evading host antibodies. This process could be crucial for reducing chronic infections of sleeping sickness if deactivated.
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A new study uses advanced techniques to identify a lost type specimen of the grey seal species, shedding light on its origins. The research has implications for conservation efforts and can be applied to study existing, lost, and novel specimens.
Scientists created a dissolvable device component using egg proteins, magnesium, and tungsten, outperforming non-degradable memristors. The components worked reliably for over three months under dry conditions but dissolved in hours in water.
SPARK aims to advance our understanding of autism's causes by collecting DNA from 50,000 individuals with autism and their families. Researchers will study genetic mechanisms and environmental factors to develop new supports and treatments.
Microscopic hair analysis is flawed due to subjective characteristics and lack of population-based databases. Re-examination by different examiners can result in inconsistent descriptions.
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The review provides clarity on assessing functional abilities and disabilities in autistic patients, shedding light on the complexities of autism spectrum disorder. Key findings highlight the importance of understanding ability and disability in individuals of all ages, allowing for more effective diagnosis and treatment.
A new blood test uses a liquid biopsy to detect genetic mutations in non-small cell lung tumors, providing a rapid and accurate method for identifying patients who can benefit from targeted therapies. The test was found to be highly accurate, with 100% predictive value for the primary EGFR mutation and 79% for the KRAS mutation.
A study of over 6,000 mothers and newborns found that maternal smoking during pregnancy chemically modifies a fetus' DNA, mirroring patterns seen in adult smokers. The research identified new development-related genes affected by smoking, suggesting a potential explanation for the link between smoking and health complications in children.
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A recent study from the University of Edinburgh reveals that tardigrades have not acquired a significant proportion of their DNA from other organisms. The research found that nearly all of what was previously proposed to be foreign DNA was actually bacterial contamination.