Genome Sequencing Strategies
Articles tagged with Genome Sequencing Strategies
Study may help predict response to chemotherapy in triple-negative breast cancer
Brain Health honors J. Craig Venter (1946–2026), the genomicist whose earliest breakthroughs began at the National Institute of Neurological Disorders and Stroke
J. Craig Venter's pioneering work in expressed sequence tags revolutionized brain-expressed genes identification, while his synthetic cells paved the way for synthetic biology as a working discipline. His legacy has reshaped our understanding of genomes and their functions.
Thousands of genetic variants shape epilepsy risk, and most remain hidden
A mini-review synthesizes large-scale genomic findings to illuminate the polygenic architecture underlying common epilepsies. Rare genetic variants contribute to epilepsy risk, with shared biological pathways involving ion channel function and synaptic excitability
Researchers find genomics offers a faster path to restoring the American chestnut
Researchers used genome sequencing to identify blight-resistant trees with high American chestnut ancestry, preserving the species' ecological and cultural importance. The approach, known as genomic selection, allows breeders to predict resistance and make better decisions earlier in the breeding process.
4D Nucleome Consortium produces detailed models of the 3D genome over time in cells
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.
A new way to map how cells choose their fate
Researchers develop ddHodge, a geometry-preserving method that accurately reconstructs cell state dynamics. The technique reveals repeating processes like the cell cycle and identifies critical biological moments in embryonic development, tissue regeneration, and cancer progression.
Smarter tools for peering into the microscopic world
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.
New technique maps genetic variants driving neurodegenerative disease risk
A new method developed by Penn State researchers improves the analysis of genetic data, identifying more genes associated with neurodegenerative diseases like Alzheimer's and ALS. The technique, BASIC, integrates both bulk tissue samples and single-cell data to uncover shared genetic effects across different cell types.
ASHG expands year-round virtual education with genetic diagnosis and rare disease symposium
The American Society of Human Genetics (ASHG) is hosting the Genetic Diagnosis & Rare Disease Virtual Symposium, providing state-of-the-art methodologies in genetics and genomics research. Attendees can earn CME credits and engage with leading experts in rare disease diagnosis and genomic technologies.
New world record set for fastest human whole genome sequencing, representing significant step towards revolutionizing genomic care in the NICU
The team achieved rapid genomic sequencing and interpretation within hours, setting a Guinness World Records milestone. This breakthrough has the potential to expedite precise treatments for critically ill babies in the Neonatal Intensive Care Unit (NICU), reducing waiting times from days to hours.
University of Oklahoma researcher awarded funding to bridge gap between molecular data and tissue architecture
Marmar Moussa's project aims to bridge the gap between single-cell technologies and spatial tissue analysis, creating a more complete picture of disease development. The new algorithms will enable scientists to study tumor progression, extracellular matrix remodeling, and other dynamic processes in cancer and beyond.
Want to save an endangered species? Start with the right DNA blueprint
A new study published in Cell found that relying on stand-in reference DNA from similar but different species can significantly distort research findings for vulnerable species. Using the wrong genome can miss up to a third of genetic variations and lead to misleading conservation decisions.
MD Anderson research highlights for September 5, 2025
Researchers at MD Anderson have made significant advancements in treating kidney cancer, including the use of metastasis-directed targeted radiation therapy to delay systemic treatments. Additionally, preliminary data from an ELI-002 vaccine trial showed promise in delaying relapse of KRAS-mutated pancreatic and colorectal cancers.
Genomic techniques can streamline breeding for grain quality
Researchers developed a strategy to predict multiple traits at once based on the whole genome, increasing predictive ability by 2-10 times. This method, called multi-trait genomic selection (MT-GS), combines genetic markers with known trait links for more accurate predictions, making it a promising tool for efficient and cost-effective...
New AI tool illuminates “dark side” of the human genome
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
Scientists tackle single-cell data’s “reliability crisis” with new tool ‘scICE’
Scientists have developed a new tool named scICE to tackle the stability problem in single-cell RNA sequencing data. The tool provides a way to validate clustering outcomes mathematically, ensuring higher confidence in conclusions drawn from single-cell data.
Stanford researcher develops machine learning models to decode brain aging at cellular level
Dr. Eric Sun's groundbreaking work uses spatial aging clocks to measure biological age at the individual cell level, identifying specific cell types that drive brain aging in neighboring tissues. His machine learning models reveal complex intercellular communication networks that determine aging rates.
City of Hope-led study demystifies tumor formation’s two-step process — a foundational understanding needed to prevent cancer
Researchers at City of Hope discovered that mutated cells can persist for years without becoming cancer and require an additional inflammatory push for malignancy to occur. Chronic inflammation is a key trigger for tumor formation, making it essential to avoid situations like high-fat diets and obesity.
New AI tool visualizes a cell’s ‘social network’ to help treat cancer
A new AI tool, NicheCompass, visualizes a cell's social network to help treat cancer. By analyzing millions of cells from patient samples, the tool predicts molecular changes and identifies potential targets for personalized treatments.
Researchers identify genetic ‘fingerprint’ to predict drug resistance in bacteria
Researchers identified a unique genetic signature that can predict bacterial antibiotic resistance. The finding could help develop precision-based treatments and reduce overuse of antibiotics.
Webinar highlight: High-throughput sequencing accelerates global thalassemia prevention
Genetic testing using high-throughput sequencing (HTS) technology has significantly improved detection rates for thalassemia, offering a valuable model for high-prevalence regions. HTS-based genetic testing offers greater sensitivity and specificity without adding significant costs.
Study maps bed bugs’ genomes in unprecedented detail to find out why they just won’t die
A research team led by Hidemasa Bono mapped the genomes of susceptible and resistant bed bug strains, revealing new insights into the development of pyrethroid resistance. The study identified 729 resistance-specific mutations in protein-coding genes related to DNA damage response, cell cycle regulation, and lysosome functions.
RNA modifications in individual cells better understood with new modelling
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.
Human Cell Atlas achieves leap in understanding of the human body
The Human Cell Atlas has made significant progress in mapping individual adult tissues, developing gut cell types for ulcerative colitis research, and creating comprehensive reference maps of all human cells. The initiative aims to capture all aspects of human diversity, including genetic, geographic, age, and sex, to advance diagnosti...
Mapping 1.6 million gut cells to find new ways treat disease
Researchers have created the world's largest freely-available resource of human gut cells, mapping 1.6 million cells to identify new ways to treat disease. The study highlights a specific gut cell type involved in inflammation, potentially leading to new targets for IBD treatment and bowel cancer prevention.
Red milkweed beetle genome offers insight into plant-insect interactions
The red milkweed beetle's genome has been sequenced, providing insights into how it safely feeds on toxic plants. The study found an apparent expansion of genes related to toxin sequestration and metabolic enzymes.
Duke-NUS study finds outbreak detection under-resourced in Asia
A study by Duke-NUS reveals that only half of South and Southeast Asian countries have genomic sequencing initiatives in their national plans. The study identifies key priorities to enhance preparedness against future pandemics, including strengthening partnerships, financing, and guidelines.
Hospital bacteria tracked better than ever before with new technique
Researchers developed a new 'pan-pathogen' deep sequencing approach to capture multiple bacterial strains simultaneously. This method enables faster and more comprehensive tracking of antibiotic-resistant bacteria, potentially preventing and managing common hospital infections quicker.
New open-source platform for high-resolution spatial transcriptomics
A new open-source platform, Nova-ST, is transforming gene expression profiling in tissue samples by offering affordable and high-resolution spatial analysis. This approach allows scientists to map gene expression across a tissue section with a spatial context, enabling the study of complex biological processes.
Diatom surprise could rewrite the global carbon cycle
Diatoms, single-celled plankton, build biomass by feeding on organic carbon, challenging the assumption that photosynthesis is their only strategy. The discovery has major implications for understanding the global carbon cycle and could alter estimates of carbon dioxide diatoms pull out of the air.
Pumpkin disease not evolving, could make a difference for management
The Xanthomonas cucurbitae pathogen that causes bacterial spot has remained genetically uniform across the Midwest, with most isolates sharing over 99% identical DNA sequences. This lack of diversification may hinder the pathogen's ability to evolve and could be leveraged for developing disease-resistant crops.
Unveiling Telo-seq: A breakthrough in telomere research on aging and cancer
Telo-seq reveals dynamic mechanisms of telomeres in aging and cancer, providing new insights into their role in health and disease. The breakthrough method determines telomere length and sequence on individual chromosomes.
Scientists push single-molecule DNA sequencing to the next level
Scientists at Gladstone Institutes developed two new tools for single-molecule analysis, slashing the amount of DNA needed by 90 to 95 percent. The SMRT-Tag tool allows researchers to study DNA at single-molecule resolution using as few as 10,000 cells, enabling the analysis of tumor biopsies and other clinically relevant samples.
How do genetically identical water fleas develop into different sexes?
A team at Osaka University uses novel RNA sequencing techniques to reveal the molecular basis for sexual dimorphism in Daphnia, a species of water flea that can change its form and behavior despite being genetically identical. The study identifies genes that switch which isoforms are expressed in a sex-dependent manner.
Consortium including Brazilians sequences the reference genome of Arabica coffee
A consortium of scientists, including Brazilians, has successfully sequenced the reference genome of Arabica coffee. The study identified genes responsible for resistance to rust and other diseases, as well as those related to the aroma of Arabica coffee. By comparing a dihaploid-derived genome with a common tetraploid variety, researc...
Computational tools fuel reconstruction of new and improved bird family tree
Researchers reconstructed the entire evolutionary history of birds using advanced algorithms and genomic data from over 60,000 regions. The new family tree reveals patterns in avian diversification following the mass extinction event that wiped out dinosaurs.
Data-processing tool could enable better early stage cancer detection
A team of Rice University researchers has developed a platform for integrating DNA and RNA data from single-cell sequencing with greater speed and precision. The method, MaCroDNA, relies on a classical algorithm to identify matching pairs of data and outperformed state-of-the-art technologies in accuracy measurements.
Social distancing was more effective at preventing local COVID-19 transmission than international border closures
A new study from Scripps Research scientists and collaborators found that local transmission of SARS-CoV-2 was driven by travel between locations, not geographic proximity. The partial closure of the U.S.-Mexico border was ineffective in preventing cross-border transmission.
Pocket-sized DNA sequencers track malaria drug resistance in Ghana in near real-time
A team of scientists developed a technique to rapidly detect genetic changes in malaria parasites using portable MinION sequencers. They demonstrated the first end-to-end, real-time pathogen monitoring from clinical blood samples in rural, resource-limited malaria hotspots.
Rare kidney disease is genetically decoded
Researchers have identified genetic variants and structural patterns that contribute to the development of Bartter syndrome type 3, a rare kidney disease. The study's findings may lead to better diagnostic and treatment options for affected individuals.
Whale of a debate put to rest
Researchers have finally solved the mystery of the pygmy right whale's evolutionary history, revealing it as a distinct lineage not related to right whales. The study, published in Marine Mammal Science, used genome sequencing and morphology to confirm the whale's unique characteristics.
Rice U.’s Todd Treangen wins NSF CAREER Award
Rice University's assistant professor of computer science, Todd Treangen, has been awarded a $599,943 National Science Foundation CAREER Award to develop a comprehensive computational platform for detecting yet-unseen microbial pathogens. The project aims to characterize previously unseen pathogens that could pose a risk to humans.
Aging | Single nuclei profiling identifies cell specific markers of skeletal muscle aging, frailty, and senescence
A study published in Aging-US reveals changes in gene expression associated with age-related muscle loss and frailty. Researchers identified unique cellular subpopulations in aged and sarcopenic skeletal muscle, which may facilitate the development of new treatments for age-related frailty.
Study reveals “day zero” testing strategy to transform future pandemic response
Researchers evaluate Jumpcode Genomics CRISPRclean technology for transforming pandemic response through highly sensitive testing. The assay quickly identifies variant strain types and individual host responses in a single workflow.
Oat reference genome: Insights into a uniquely healthy cereal crop
The newly published oat genome sequence provides insights into its health benefits and breeding potential. The hexaploid genome contains genes linked to human health and nutrition, supporting oat safety in gluten-free diets.
First complete, gapless sequence of a human genome reveals hidden regions
The new T2T reference genome adds nearly 200 million base pairs of novel DNA sequences, including 99 genes likely to code for proteins. This completes the first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy.
Placenta may hold clues for early autism diagnosis and intervention
Researchers at UC Davis MIND Institute found a novel gene linked to autism spectrum disorder in newborns. The study analyzed DNA methylation signatures in the placenta, which reflected fetal brain development and early autism diagnosis.
Sanford Children's Genomic Medicine Consortium sequences genomes in immune-compromised children
The Sanford Children's Genomic Medicine Consortium has initiated a whole genome sequencing research project to investigate undiagnosed illnesses in children with suspected inborn errors of immunity. The study aims to sequence the genomes of up to 25 patient genomes and learn information that can benefit patients and others.
Inventory of the world belowground: Using DNA to study fungal communities
A new study published in Applications in Plant Sciences highlights the negative effects of clearcutting on mycorrhizal fungi, showing less diversity in formerly deforested areas. High-throughput sequencing reveals over 300 distinct fungal lineages in soil and root samples, shedding light on ecosystem health.
Scientists can now assemble entire genomes on their personal computers in minutes
Researchers at MIT and Institut Pasteur have created an efficient method for assembling entire genomes, including the human genome, in minutes using personal computers. This approach uses minimizer-space de Bruijn graphs to store only a small fraction of nucleotides while preserving overall genome structure, enabling faster processing ...
In situ extraction and detection of DNA is an im-pore-tant development
Researchers at Osaka University have developed a new method for detecting single DNA molecules directly from individual cells, eliminating the need for subsequent steps. The 3D-integrated nanopore allows for efficient delivery of released DNA molecules to the sensing zone, enabling robust detection and analysis.
A new vision for AAV-delivered gene therapies
A new AAV-delivered gene therapy strategy uses immunomodulation to reduce inflammation and improve efficacy. By incorporating TLR9-inhibitory sequences into the AAV genome, researchers have enhanced expression of transgenes in mice, suggesting potential for higher efficacy.
Thoughts on plant genomes
The sequencing of plant genomes has accelerated significantly, with over 181 horticultural species now sequenced. These advancements have provided new insights into the inheritance of traits and evolutionary aspects of various plant species, including fruit development and ripening. The data will benefit future research projects and pr...
Software locates sugarcane genes of interest
Brazilian researchers developed a software program called Polyploid Gene Assembler (PGA) to map specific portions of plant DNA, saving at least two orders of magnitude compared to mapping the whole genome. The technique uses publicly available data from related grasses to locate genes of interest for plant breeders.
GA4GH announces new interoperability standards for genomic data sharing
The Global Alliance for Genomics and Health (GA4GH) has released three new interoperability standards: Beacon API, refget API, and Workflow Execution Service (WES) API. These standards address variant discovery, patient case discovery, reference sequence harmonization, and cloud computing to enable responsible genomic data sharing.
First detailed decoding of complex finger millet genome
Researchers have successfully decoded the complex genome of finger millet, a staple food in India and Africa, revealing over 62,300 genes. The new data holds promise for improving crop resilience to drought and enhancing nutritional content, addressing food security concerns globally.
Genome yields insights into golden eagle vision, smell
The golden eagle genome sheds light on the species' vision, suggesting that ultraviolet light is not as sensitive as previously thought. The study also reveals a sharper sense of smell than initially believed, which could aid in tracking populations and monitoring mortality.
Tapping into sorghum's weed-fighting capabilities to give growers more options
Researchers at the ARS Natural Products Utilization Unit have found a way to make sorghum less toxic to certain crops, while increasing its weed-fighting abilities. This discovery may lead to more sustainable agricultural practices and reduced pesticide use in other crops.
First wild grass species and model system for energy crops sequenced
The International Brachypodium Initiative has sequenced the genome of the wild grass Brachypodium distachyon, which shares features with major grass genomes. This provides a genomic navigation system for studying agronomic traits in wheat and barley genomes.