Articles tagged with Genomic Analysis
Researchers at Children's Hospital of Philadelphia developed ESPRESSO, a new computational tool that can accurately discover and quantify RNA molecules from error-prone long-read RNA sequencing data. This will enable better diagnosis of rare genetic diseases and discovery of potential therapeutic targets in cancer.
Researchers analyzed over 600 genome sequences to chart the complex history of Y. pestis, the bacterium that causes plague. They found an unstable molecular clock and identified five populations throughout history, including ancient pandemic lineages.
A recent study found that genomic testing can identify genetic causes of childhood hearing loss and provide critical information on its clinical characteristics. The researchers detected variants responsible for hearing loss in 43 different genes, and the severity of hearing loss varied by gene.
Researchers analyzed 100 ancient genomes to understand kinship and marriage rules in Minoan Crete and Mycenaean Greece. They found that cousin marriages were common, with over 90% of sons marrying within their own family's hamlet.
A new toolkit enables researchers to map individual RNA data to a more diverse 'pantranscriptome', addressing reference bias and increasing the accuracy of gene expression mapping. This approach builds on pangenomics, allowing for the comparison of an individual's genome to genetically diverse cohorts of reference sequences.
Researchers advocate for descendant community involvement in ancient DNA research to ensure benefits and risks are shared fairly. Without such guidance, the science can be exploitative, perpetuating colonial practices and harming modern Indigenous groups.
A landmark study found a strong genetic correlation between higher education and protective causal association with several gut disorders. The research reveals that better education reduces the risk of diseases such as Alzheimer's and inflammatory bowel disease (IBD).
A new study analyzes 48 ancient human genomes and over 16,500 modern Scandinavian genomes to reconstruct the region's genetic history. The research shows that ancestries introduced during the Viking period later declined, suggesting ancient immigrants contributed proportionately less to the modern gene pool.
A study in Serrana, Brazil showed that mass vaccination reduced severe cases and death rates even while gamma and delta variants were circulating. Vaccination coverage reached 80% of the target population.
A massive international data analysis uncovered hundreds of signals for new treatment and prevention targets in colorectal cancer. The study identified 250 independent risk associations, including 50 newly discovered ones, through analyzing genomic, transcriptomic, and methylomic data.
A comprehensive analysis of over 100,000 colorectal cancer cases identified 100 new genetic risk factors strongly linked with the disease. These findings could help clinicians determine who's at highest risk for early detection and potentially identify candidates for preventive treatments.
A recent analysis of Psychiatric Genomics Consortium datasets found genetic correlations between psychiatric disorders differ between European and East Asian populations. Japanese psychiatrists tend to diagnose bipolar disorder less frequently in patients with psychotic features.
A study found that antibodies to common antibiotic gentamicin are associated with an increased risk of progression to type 1 diabetes in children already genetically at risk. The researchers also identified an association between the FUT2 gene and the production of these antibodies, which may be compounding risks for type 1 diabetes.
Researchers uncovered distinct DNA methylation profiles in ocean microbes, shedding light on population dynamics and interactions. The study's findings have significant implications for understanding pathogenicity and developing new approaches to monitoring environmental health.
Researchers used WGS data of 10,585 people from China to construct the first blood virological profile of the Chinese population. The study identified 14 viruses widely present in the population, including hepatitis B virus, which was detected in 1.69% of individuals.
Researchers from Trinity College Dublin analyzed ancient DNA from two men with multiple osteochondromas, a rare genetic disease, and identified new mutations in the EXT1 gene. This study is the first to discover a new disease mutation in ancient genomic data.
A new AI evaluation framework, GOPHER, has been developed to assess the efficiency of genome analysis algorithms. The tool judges programs on their ability to learn genomic biology, predict patterns, handle noise, and provide interpretable decisions.
The German Research Foundation renewed CRC 1361 for an additional four years to explore mechanisms of DNA repair and genome stability. The consortium aims to elucidate how cells safeguard genetic information and promote human health by understanding DNA damage signaling pathways.
A new study maps the global landscape of antimicrobial resistance, revealing surprising transmissions in Sub-Saharan Africa and highlighting the need for tailored strategies to combat resistance. The research, which analyzed sewage samples from 243 cities in 101 countries, found that resistance genes are more frequently transmitted acr...
Researchers found shared genetic factors that contribute to severe COVID-19 risk and blood analyte levels. High triglyceride levels were strongly linked to increased risk of severe disease, supporting the use of lipid-lowering drugs against severe COVID-19.
A new study explores the value of 'trash data' from cancer genome sequencing, identifying new strategies to uncover previously unexplored information. The researchers found that genomic and transcriptomic data contain relevant information that can help elucidate carcinogenesis and discover putative biomarkers with clinical applications.
Researchers have identified genetic variants associated with natural resistance to SARS-CoV-2, including a gene linked to mucin production. These findings may help develop vaccines and treatments for viral diseases by understanding the mechanisms underlying immune responses.
A new study analyzed tumor biopsies from patients with newly-diagnosed germinal center B cell lymphoma and found that CREBBP mutations were associated with lower disease-free survival rates. The researchers identified CLMA as a practical tool to translate experimental findings into clinical applications.
A new guideline aims to standardize human genomic sequencing research in Canada by establishing essential core consent elements. This will enable researchers to collect patient data in a consistent manner, ensuring transparency for participants and streamlining the review process.
A new statistical method called CLIMB provides a more efficient way to analyze genomic data across multiple conditions. The method combines principles from two traditional techniques, reducing computational intensity and producing biologically interpretable results.
Researchers from SickKids have uncovered new genes and genetic changes associated with autism spectrum disorder, including 134 linked genes and gene copy number variations. The study offers a better understanding of the 'genomic architecture' underlying this disorder.
Researchers found that SARS-CoV-2 increases methylation of host cell RNA, which can help the virus evade the immune system. This discovery provides insights into how different variants escape immunity and offers potential avenues for novel COVID-19 treatments.
Researchers developed STAARpipeline to analyze rare genetic variants, enabling comprehensive analysis of noncoding variants. The tool found significant associations in gene-centric and non-gene-centric analyses, advancing genetic research.
A new study by UCL researchers found that tailoring whole genome sequencing analysis to individual patients can double the diagnostic rates of rare diseases. The personalised approach increased the diagnostic rate from 16.7% to 31.4%, detecting potential disease-causing variants in a further 3.9% of patients.
Researchers identified specific monkeypox mutations that contribute to its continued infectiousness. The virus is accumulating mutations where drugs and antibodies from vaccines are supposed to bind, making it smarter and more infectious.
Researchers used DNA from two ancient human individuals to unravel the deep demographic history of South America, providing new genetic evidence supporting existing archaeological data. They also discovered migrations along the Atlantic coast for the first time and found evidence of Neanderthal ancestry within ancient genomes.
The Association for Molecular Pathology (AMP) has published consensus recommendations for using in silico approaches to validate Next-Generation Sequencing (NGS) data analysis pipelines. The guidelines provide expert opinion on the advantages and disadvantages of different types of in silico data and offer general recommendations for s...
The study found that genetic variants associated with height are concentrated in regions covering just over 20% of the genome. The variants identified explain 40% of the variation in height for people of European ancestry, and around 10-20% for those of non-European ancestry.
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.
Researchers have identified microRNA-7 as a non-classic genetic risk factor for hereditary obesity. The molecule affects energy balance and appetite regulation in humans and mice, highlighting the need to examine non-genetic factors in gene-based studies. This discovery may lead to new therapeutic approaches for treating obesity.
Researchers used multi-omics technologies to analyze samples from 350 patients with major depressive disorder, finding distinct blood-based signatures between those with and without a history of attempted suicide. Variations in genes CLOCK and ARNTL were associated with lower antidepressant response rates.
Researchers at KAUST have identified thermophilic bacteria with potential to degrade oil contamination. The study reveals that certain bacteria can secrete surfactants and absorb emulsified petroleum into their cells for degradation via enzymatic activity.
This study reveals genetic insights into artificial selection and ecological adaptation in silkworms, identifying 468 domestication-associated genes and 198 improvement-associated genes. The pangenome dataset also sheds light on the origins of domesticated silkworms and their economic traits.
Researchers identified at least 55 independent strains of the Delta substrain AY.29 in 20 countries, with 41 potential links to Olympic and Paralympic participants. The study analyzed genomes from over 6 million international samples, uncovering the spread of the variant during the Tokyo Olympics.
Researchers at the University of Maryland Baltimore County have discovered that some viruses can sense their environment and
Researchers developed a faster, more affordable method to analyze serological data and predict COVID-19 wave behavior. The study showed that vaccination boosted immunity, with hybrid immunity producing higher protection levels. Antibody levels rose quickly after the first dose, especially in cities where case numbers were highest.
Researchers at Kyoto University have developed a new method to detect intraspecies genomic diversity, or microdiversity, of uncultivated bacteria. This approach allows for a more comprehensive understanding of microbial ecology and evolution, as previously overlooked variations are now being studied.
Research institutes from Finland, Germany, Norway, Spain, and Sweden have launched the Federated European Genome-phenome Archive (Federated EGA) to improve data sharing across national borders. The new platform enables secure access to sensitive human data for research while respecting national data protection regulations.
Geisinger Health System is conducting a comprehensive study on the genetic causes of cerebral palsy, funded by a $3.3 million NIH grant. The research aims to identify individual genes and regions responsible for the condition, which affects 1 in 500 people worldwide.
Researchers at USC discovered that the COVID-19 virus uses a human enzyme to accelerate its mutations, allowing it to evade vaccines and spread quickly. By understanding this mechanism, scientists can predict new variants and develop more effective vaccines.
A new method using machine learning corrects damaged DNA and unveils true mutation processes in tumour samples, helping early cancer detection and accurate diagnosis. The tool predicted over 90% of developing cancer processes, offering a significant advancement in cancer patient care.
Researchers used high-resolution imaging techniques to identify a new ant species and genus, †Desyopone hereon gen. et sp. nov., from 16-23 million year old Ethiopian amber.
The study developed a high-throughput method for screening non-photochemical quenching rates in field-grown plants using pulse amplitude modulated chlorophyll fluorescence analysis. This approach enables testing hundreds of genotypes within a day, paving the way for genome-wide association studies.
Scientists reconstruct evolution of complex multicellular organisms using genomic data and computational models, revealing gradual changes that began early in evolution. The research reveals distinct paths taken by animal and fungal lineages, shedding light on their shared eukaryotic supergroup.
Mutations in EnhP disrupt a non-protein coding gene, causing pancreatic malformations and diabetes. The study sheds light on the hierarchical operation of enhancers in gene regulation.
A study of Y chromosome genomic analysis reveals evidence of a South American settlement pre-18,000 years ago. The findings also suggest a profound genomic impact during the Younger Dryas period.
A recent study analyzed millions of SARS-CoV-2 genomes and found that recombination occurs more frequently in the spike protein region. The researchers developed a new software, RIPPLES, to detect this phenomenon, which is crucial for understanding the evolutionary history of the virus.
Researchers analyzed genomic data from 44 women with germline PTEN mutations who developed breast cancer and compared it to sporadic breast cancers. They found that PTEN and PIK3CA were the most frequently somatically mutated genes in PHTS-associated breast cancers, indicating that somatic mutations in PTEN drive these cancers.
Researchers have constructed a comprehensive map of CLL genetic changes, providing a better understanding of the complex malignancy. The study identifies key genes and subtypes with distinct prognoses, paving the way for more accurate diagnoses and personalized treatments.
The Sixty-third Supplement to the Check-list of North American Birds updates bird classifications, including meadowlark species splits, hummingbird recognitions, kite separations, and the addition of a giant-petrel. New subspecies are also recognized for some bird species, reflecting advances in genetic analysis.
A Canadian study reveals that international travel restrictions were key to reducing the spread of new COVID-19 variants. By limiting virus importations, governments gained time to ramp up testing, tracing, and healthcare interventions.
The study proposes a new statistical method to analyse population admixture, enabling more accurate determination of migration wave timing. The authors applied this method to Colombians and Mexicans, revealing two episodes of admixture in different time periods.
Researchers at Gladstone Institutes developed a tool called Retro-Cascorder, which logs a cell's genetic activity for days at a time. This allows scientists to create living biosensors that can record changes to their environment.
Researchers confirm COVID-19 originated from live animals sold at Huanan Seafood Wholesale Market in Wuhan, China. The market was the epicenter of the epidemic, with vendors getting infected first and setting off a chain of infections.
A study published in Nature Communications describes the performance of GTRx, an automated disease management system that integrates rapid Whole Genome Sequencing diagnosis with analysis pipeline. The system provides clinical decision support to guide physicians in selecting optimal therapies for critically ill infants and children.