A University of Oklahoma researcher has been awarded a competitive NIH grant to advance tribally defined genomic research approaches. The project, called Partnerships for Indigenous-led ELSI Research (PIER), will strengthen meaningful collaboration with Indigenous communities and promote Indigenous-driven approaches to genomic research.
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The study created a critical framework for understanding the architecture of the genome and its association with gene function in cells. The 4DN Consortium integrated data from over a dozen techniques to compile an extensive catalogue of looping interactions between genes and regulatory elements.
Researchers at Arizona State University introduce powerful tools to analyze microbial family trees and biological data, strengthening microbiome research, disease tracking and environmental monitoring. The new software library scikit-bio provides a foundation for analyzing large biological datasets.
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
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The Hong Kong Bauhinia Genome Project has completed a decade-long effort to sequence the DNA of Hong Kong's floral emblem, revealing 28 complete chromosomes and solving the species' parentage. The project's T2T genome assembly provides insights into genetic mechanisms underlying its vibrant blooms and ecological adaptability.
The VAST project seeks to understand the normal human virome, the vast ecosystem of viruses living in and on humans. By analyzing tens of thousands of samples from diverse populations, researchers aim to identify how a healthy virome shifts with disease or environmental factors.
Researchers identify colibactin, a bacterial toxin that alters DNA, as a potential trigger for early-onset colorectal cancer. Exposure to colibactin in childhood may imprint a distinct genetic signature on colon cells, increasing the risk of developing cancer before age 50.
John N. Weinstein, MD, PhD, chair of Bioinformatics and Computational Biology at MD Anderson Cancer Center, has been elected Fellow of the American Association for Cancer Research (AACR) Academy. He made significant contributions to advancing our knowledge of molecular profiles of cancer through multi-omic studies and data analysis.
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A new project by Cornell University researchers explores how genetically identical grapevines adapt to temperature, humidity, and soil differences in three states. The study aims to uncover the most adaptable varieties to aid grape growers in coping with erratic climate conditions.
A comprehensive atlas of gene activity in chickens has been created, revealing how millions of genetic variants affect gene regulation and giving researchers tools to understand agriculturally important traits. This knowledge could lead to healthier flocks, more resilient farming systems, and fewer economic losses for poultry producers.
A genomics blood test has improved diagnosis and treatment plans for children with rare diseases, including epilepsy. The test provides genetic diagnoses for 43% of children in under three weeks, leading to significant impacts on treatment.
Researchers analyzed chloroplast genomes of cacao trees from northern Peru to determine the species' age and diversity. The study found that the current known diversity diversified during the Pliocene or Miocene epochs, approximately 7.5 million years ago.
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Researchers have identified a new variant, clade 1b, of the mpox virus that has become more infectious and is spreading rapidly across borders. The study found that this variant primarily spreads through heterosexual contact in densely populated areas, with an estimated fatality rate of 3.4%.
Scientists have released new high-quality genome sequences for two critically endangered pangolin species, revealing genetic vulnerabilities and extinction risks. The research provides essential information for rescue operations and focusing on the best ways to conserve these unique animals.
The Predictive Phenomics Initiative and the Exposome Moonshot aim to understand the impact of molecular signaling on organisms. Environmental factors, such as diet and lifestyle, can significantly affect biological processes, influencing traits like height, disease risk, and even eye color.
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The Collaborative Science Pilot Awards program aims to inspire innovative research projects across UH and Case Western Reserve. Five teams will focus on organizing an MR Fingerprinting database, developing a genetic risk aid for early keratoconus detection, analyzing Alzheimer's treatment mechanisms, treating gastrointestinal symptoms ...
Researchers have reconstructed the evolutionary origin of the complex configuration of multiple sex chromosomes in echidnas using their nearly gapless genome sequence. The high-quality data helped trace genetic events that led to this remarkable chromosomal arrangement, including chromosome fusion and fission events.
Researchers developed a new tool called SigRM to analyze single-cell epitranscriptomics data, enabling the study of RNA modifications in individual cells. This can provide valuable insights into gene regulation and its impact on health and disease, particularly in complex conditions like cancer.
A new study published in The British Journal of Cancer found that whole genome sequencing can help identify treatment recommendations for cancer patients. The study evaluated the regional implementation of the 100,000 Genomes Project and found that different types of cancer were associated with varying rates of recommended actions.
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Researchers from The University of Texas at Arlington are conducting a DNA analysis project to determine the genetic differences between the rare Dixon's whiptail and the common checkered whiptail. If the two species are found to be distinct, Dixon's whiptail may become eligible for endangered species protection.
A new genomic study reveals high genetic diversity and low inbreeding in the endangered Oriental Stork population, a common finding in many critically endangered species. The study provides hope for the species' long-term survival and suggests that protecting its habitats could rapidly rescue this species from extinction.
A large-scale study of children with genetic disorders found that thousands benefited from targeted treatments and support after receiving a genetic diagnosis, with over 20% able to start or adjust therapies. Researchers expect this number to grow as new genetic therapies develop.
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The NIH is establishing a network to integrate genomics into learning health systems, analyzing and improving the use of genomic information in patient care. The goal is to create generalizable knowledge and genomic medicine practices that can be shared with under-resourced settings, improving patient outcomes.
The European Reference Genome Atlas pilot project successfully assembled high-quality reference genomes for 98 European species, including the Cretan wall lizard and Aristotle's catfish. These genomes will enable scientists to make accurate assessments of endangered species' genetic status and inform conservation actions.
The Hong Kong Biodiversity Genomics Consortium has launched a project to sequence the genomes of its eukaryotic biodiversity, which is rich in species but threatened by climate change. The first five genomes have been published in GigaByte Journal to coincide with International DNA Day.
A team of scientists sequenced the full genome of a sea cucumber collected at a hydrothermal vent, revealing expanded gene families involved in DNA repair and iron metabolism. The research provides valuable insights into the unique adaptations of marine animals to survive in extreme environments.
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Researchers have created detailed genetic maps of green and leatherback sea turtle genomes, providing insights into their unique adaptations and evolutionary history. The study reveals that genetic differences between the two species are mainly found on microchromosomes, which may hold the key to each species' survival.
The FinnGen study has identified over 2,500 genomic regions linked to at least one disease, including previously unknown risk factors for common and rare diseases. The research highlights the power of Finland's unique genetic landscape and population history in driving novel discoveries.
Researchers have completed and released a chromosome-scale genome sequence of the Aldabra giant tortoise, providing a much-needed genetic resource for rescue efforts. The data will aid in breeding efforts, comparative studies with other tortoise species, and understanding the species' remarkable size.
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Researchers at the University of South Australia are using new technologies to speed up blood cancer diagnosis and treatment. The project aims to identify genetic variants that cause cancer, enabling clinicians to provide targeted treatments and improve patient management.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
Scientists have deciphered the helmeted honeyeater's genome and created a genetic map to guide advanced genetic rescue methods. The new tools allow for precise breeding decisions, reducing inbreeding and its negative impact on population health.
The Earth BioGenome Project aims to sequence all eukaryotic life, with 9,400 taxonomic families expected to be completed by 2023. The project's progress has sparked excitement for its potential to prevent biodiversity loss and adapt food crops to climate change.
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Scientists have analyzed the lychee genome to uncover its ancient history and identify genetic markers for breeding programs. The study found that lychees were domesticated independently in two regions of China, Yunnan and Hainan, leading to early- and late-maturing varieties.
A pilot study reveals that whole genome sequencing can refine diagnoses and provide new treatment options for children with cancer. The study found genetic variants that could change prognosis or suggest hereditary causes of the cancers, as well as treatments that may be effective but were not previously considered.
The Ulsan 10,000 Genome Project has successfully completed the sequencing of 10,044 whole genomes, including 5,300 patients and 4,700 healthy individuals in Ulsan. This comprehensive genomic data will help accelerate the commercialization of genomic research in Korea.
Kansas State University researchers and international partners have completed the genome sequencing of 15 wheat varieties, representing breeding programs worldwide. This valuable resource will improve global wheat production by unlocking genetic potential for disease resistance and quality improvement.
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Researchers at Peking University have developed a new model that uses artificial intelligence to predict the distance between atoms in materials. By modifying the size of ions, they were able to achieve more accurate results than current models, with an average deviation of less than 0.1 Å.
The 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, identifying over 88 million sites that vary among people. This database will help researchers understand how inherited genetic variations contribute to disease risk and drug response, enabling the development of improved dia...
A team of scientists has created the most extensive catalogue of structural variations in human genomes, revealing over 200 missing genes and demonstrating that these changes are common risk factors for disease. The study's findings will help guide future research on genetics, evolution, and disease diagnosis.
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A new study using whole genome sequencing identifies 19% of deleterious de novo mutations and 31% X-linked or autosomal inherited alterations in autism spectrum disorder. The findings also reveal genetic variants in several risk genes, including CAPRIN1, AFF2, VIP, SCN2A, KCNQ2, NRXN1, and CHD7.
A multinational team of scientists has sequenced 1,092 human genomes to determine the standard range of human genetic variation. This will enable biologists and physicians to interpret a patient's disease genome in a broader context, leading to better understanding and targeted treatment.
The 1000 Genomes Project has mapped normal human genetic variation at different scales, revealing differences between individuals and populations. The results open new approaches for research on the genetic causes of diseases, including links to specific DNA sequences and their inherited variants.
BGI unveils new global collaborative projects including the Million Genomes Project, Rice Genome Project, and 1% Danes' Genome Project. These initiatives will advance our understanding of species genome, agricultural productivity, and human disease. The projects aim to sequence millions of genomes to improve crop yields, develop person...
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A new gene, MCF2L, associated with osteoarthritis has been identified through a genome-wide association scan using the 1000 Genomes Project data. The variant is found on chromosome 13 and regulates nerve growth factor (NGF), suggesting that MCF2L plays a role in the development of osteoarthritis.
The Genome 10K Project aims to sequence the genomes of 10,000 vertebrate species, including humans. The project will focus on 101 species, chosen for their phylogenetic diversity and scientific interest, and will be sequenced within the next two years.
A international study published in Nature has cataloged the human DNA mutation repertoire from five populations, including Europe, East Asia, South Asia, West Africa, and the Americas. The study found that approximately 15 million mutations were identified, with only about 50 arising from one generation to the next.
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Researchers propose six categories to describe genome sequence quality, from 'Standard draft' to 'Finished', addressing concerns over data integrity and reliability. The new standards aim to standardize sequencing technologies and help researchers know the quality of publicly available genomes.
A 3D kidney atlas has been created to help diagnose and treat renal diseases more effectively. The atlas, part of the European Renal Genome Project, will aid in understanding genes that play a key role in renal diseases and other data on anatomy.
Three biotech companies, 454 Life Sciences, Applied Biosystems, and Illumina Inc., will contribute to the 1000 Genomes Project by sequencing hundreds of human DNA samples. The project aims to create the most detailed map of human genetic variation for medical research.
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The International Giant Panda Genome Project aims to sequence and assemble the giant panda's draft genome within six months. The project will aid in understanding the genetic and biological underpinnings of this unique species, informing conservation efforts and advancing sequencing technology.
The release of pig genomic sequences has significant implications for biomedical research, production, food safety, and animal health. The data reveals genetic similarities between pigs and humans, which may lead to improved models for medical testing and drug development.
The Environmental Genome Project has identified genetic variations that confer susceptibility to environmental agents, including a polymorphism in the NKX3.1 gene associated with increased risk of prostate cancer. The project aims to develop effective therapies targeting these pathways.