Articles tagged with Human Dna Sequencing
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Researchers from the University of Florida discovered critical security vulnerabilities in portable genetic sequencers, exposing them to potential attacks and data breaches. The devices' reliance on insecure connections to laptops or unsecured networks amplifies these risks.
A novel 3D chromosome mapping method has been developed to detect hidden structural variants in DNA, revealing new discoveries for genetic disorders. The study successfully identified known large chromosomal variants with 100% concordance and uncovered 12 novel structural variants missed by standard clinical tests.
The Princess Máxima Center has implemented whole genome sequencing as the standard of care for children with cancer, enabling precise diagnosis and tailored treatment. This comprehensive approach also provides valuable data for developing new treatments and researching childhood cancer development.
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.
Researchers develop AI model to predict novel mutations in protein sequences, combining grammatical and semantic changes. The method uses all available information about the sequence and mutations to create a more accurate prediction model.
Researchers use generative AI to predict chromatin structures in single cells, overcoming limitations of existing experimental methods. The technique can generate thousands of structure predictions in minutes, enabling faster study of how 3D genome organization affects gene expression.
A new study reveals that long-read sequencing can diagnose rare genetic diseases more accurately, quickly, and affordably. By analyzing longer stretches of DNA, this technology eliminates gaps and provides direct phasing data, improving the diagnostic yield of genetic sequencing.
Scientists have developed a new method using artificial intelligence to design thousands of DNA switches that can activate or repress genes in specific cell types. This approach could revolutionize gene therapy and biotechnology by allowing precise control over gene expression in the body.
The study found H5N1 virus detected in 10 out of 10 cities and 22 out of 23 sites, but no correlation with hospitalizations. The team used viral probe capture to detect viruses in wastewater samples, revealing animal origins of the virus load
Researchers developed an AI model called GROVER that treats human DNA as a text, learning its rules and context to draw functional information about the DNA sequences. The tool has the potential to unlock the genetic code and advance personalized medicine.
Researchers used long-read sequencing to map out gene isoform diversity in the brains of mice with human tau protein mutations. The study found hundreds of new isoforms associated with tau accumulation and differential expression in human Alzheimer's disease tissue.
Researchers have generated complete 'end-to-end' reference genomes for the sex chromosomes of five great ape species, highlighting enormous variation on the Y chromosome. The findings inform understanding of diseases related to genes on these chromosomes in both apes and humans.
The study identified over 150 genetic variants linked to disease and showcased the utility of using organoids for brain research. Machine learning was used to predict gene activity, enabling faster and more efficient research.
Researchers found a correlation between genetic variations in three telomere-related genes and an increased risk of developing papillary thyroid cancer. The study suggests that individuals with these variants may benefit from closer monitoring for secondary cancers, and highlights the role of long telomeres in cancer development.
Researchers at Karolinska Institutet developed a Single Cell Atlas (SCA) platform to profile human biology through multi-omics technologies. The extensive collection of data provides unique insights into individual cell properties and tissue interactions.
A team of researchers used a rapid metagenomics technique to sequence viral RNA and DNA from blood-engorged mosquitoes collected in São Paulo city, identifying vectors, viruses, and hosts. The protocol has the potential to extend our understanding of insect genetic diversity and arbovirus transmission.
A new study from the Keck School of Medicine of USC found that genome-wide association studies' imputation technique works better for European, African American, and Latino groups than others. The researchers evaluated over 100 global populations, finding that imputation is less reliable for those farther away from Europe.
Researchers at the University of Alabama at Birmingham discovered that the ALG6 variant is associated with altered phenotypes in patients with RP59, including delayed peripheral rod degeneration and diminished macular cone photoreceptor health. This study highlights the complex effects of modifier genes in human genetic disease.
Researchers found that T cells can reshape their memory and maintain diversity against COVID-19 variants in response to successive mRNA vaccinations. The study revealed a shift among clonotypes, with a change from early responders to main responders after the second shot, suggesting a new dominant population of effector-memory T cells.
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.
Genetic analysis of bone fragments at the Ranis site in Germany confirms that modern humans reached Northwestern Europe 45,000 years ago, overlapping with Neanderthals. The findings suggest that the invasion of Europe by modern humans helped drive Neanderthals to extinction.
A study found a link between a variant in the SYCE2 gene and an increased risk of pregnancy loss. The variant affects chromosomal recombination, which is essential for meiosis and reproduction. The study involved over 114,000 women from Iceland, Denmark, and other countries.
A study involving 119,606 Chinese newborns found that concurrent hearing and high-throughput genetic screening significantly enhances congenital hearing loss management. The detection rate of certain gene mutations was also reported, highlighting the importance of considering multiple factors for accurate diagnosis.
Research reveals human occupation in Charco Verde II site from 21,000 to 15,000 years ago, defying the idea that Upper Palaeolithic humans avoided inland Iberia due to its cold climate.
Researchers have found a link between the antiviral drug molnupiravir and a pattern of mutations in the SARS-CoV-2 virus. The study used global sequencing databases to map mutations over time, identifying a mutational signature associated with individuals who took molnupiravir.
A new study has shed light on the origins of St Helena's 'liberated' Africans, who were brought to the island between 1840 and 1867. The research reveals that they most likely originated from areas between northern Angola and Gabon in West Central Africa.
A team of researchers has generated the first complete sequence of a human Y chromosome, uncovering important genomic features with implications for fertility. The new sequence reveals factors in sperm production and provides insights into medically relevant regions, such as the azoospermia factor region.
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.
The team successfully completed the sequencing of the Y chromosome using long-read sequencing technology and innovative computational assembly methods. This achievement adds 41 additional protein-coding genes and provides crucial insight into reproduction, evolution, and population change.
Researchers at Children's Hospital of Philadelphia developed TEQUILA-seq, a cost-effective technology for targeted long-read RNA sequencing. This innovation enables accurate accounting of all RNA molecules emanating from a single gene, crucial for understanding diseases like cancer.
Researchers found a strong association between certain gut bacteria and coronary atherosclerotic plaques, which can lead to heart attacks. The study analyzed gut bacteria and cardiac imaging data from over 8,900 participants and identified Streptococcus species as key players.
Scientists at RIKEN Center for Brain Science find that somatic mutations in six genes lead to intracranial aneurysms, which can be blocked with a drug. The study establishes the first non-surgical animal model of intracranial aneurysm and provides a potential new treatment option.
Leif Ludwig's analytical method allows for easier disentanglement of blood cell trajectories, enabling identification of leukemia cell development or degenerative changes. This breakthrough opens up possibility for human medicine to conduct studies in clinical practice and derive therapeutic interventions.
Researchers discovered poly(A)-tail-mediated remodeling of maternal mRNA during the oocyte-to-embryo transition, involving partial degradation and re-polyadenylation. This process is essential for human embryo development, as blocked re-polyadenylation leads to failed first embryo cleavage.
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.
The expanded 1000 Genomes Project resource now includes nearly all parent-child trios alongside the original samples, sequenced at high coverage using Illumina NovaSeq instruments. This comprehensive analysis presents significant improvements in variant calls, especially among rare SNVs, INDELs, and SVs.
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.
DNA recombinations of specific genomic sequences are found in both normal and diseased states, challenging the idea of a single genetic code. The study identified millions of mutations caused by recombination of repeated sequences Alu and L1, which may contribute to cancer and other genetic disorders.
Scientists analyzed DNA sequence data from nearly 71,000 people worldwide and identified mutations in ACE2 and TMPRSS2 genes that affect protein expression, influencing COVID-19 susceptibility and severity. The study suggests a potential new diagnostic method based on host cell variation rather than the evolving virus.
Researchers found that different lineages of Cryptosporidium parvum are increasingly exchanging their DNA, which helps the parasite evolve faster and potentially result in more virulent strains. The study suggests that globalization and close contact with animals increase the rate of genetic exchange.
Researchers at the University of Kentucky have developed an online portal to visualize how biases in RNA sequences impact gene expression. The study found that over 3,000 genes exhibit variable ramp sequences, which correspond to increased gene expression in specific tissues and cells.
SeqScreen, an open-source software toolkit, accurately characterizes short DNA sequences to detect pathogenic sequences. The program uses a curated database of thousands of gene sequences representing 32 types of virulence functions.
Researchers identified DNA damage-inducible transcript 4 (DDIT4) as a critical factor regulated by histone deacetylase 4 (HDAC4) in skin aging. Overexpression of HDAC4 rescued cells from senescence, while DDIT4 overexpression reversed changes associated with aging.
A Rutgers study predicts a woman's risk of miscarriage based on her genome, providing valuable insights for reproductive choices and fertility treatment plans. The researchers developed an algorithm using machine learning methods to identify genetic variants associated with aneuploidy in human eggs.
Whole genome sequences of ancient Uruguayan Indigenous people provide a genetic snapshot of populations before European military campaigns decimated them. The results support the theory of separate migrations into South America, contradicting the idea of a single Native American race across North and South America.
A recent study by Cornell scientists explores the relationship between human genetics and gut microbiome functions, identifying correlations between genetic variations and microbiome-associated traits. The research, led by Ilana Brito, uses a novel computational approach to model the distribution of functions and species within the hum...
A complete, gapless genome sequence has been completed for scientists and physicians, revealing new details about the region around the centromere. The newly sequenced genome provides insights into human genetic variation and may hold clues to the evolution of our ancestors in Africa.
Researchers have published the first complete, gapless sequence of a human genome, enabling more accurate maps for chromosomes and discovery of over 2 million additional variants. This milestone advances our knowledge of chromosomal segregation and division.
The completed human genome assembly has revealed new insights into human evolution and diseases. Researchers found that highly repetitive regions, including segmental duplications, contain genes critical for brain development and function. These findings shed light on the genetic factors that make humans distinct from other primates.
The new reference genome provides a more complete sequence of the human genome, shedding light on long-running mysteries surrounding centromeres and heterochromatin. This breakthrough enables researchers to better understand gene expression, variation, and epigenetic mechanisms.
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.
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.
A large international team has revealed the final eight percent of the human genome, containing noncoding DNA with crucial roles in cellular functions and potentially linked to cancer. The completed sequence provides new insights into cell division and disease mechanisms.
Researchers fill in gaps in Human Reference Genome, discovering repetitive sections are a major source of human variation and genetic diversity. The Telomere-2-Telomere project reveals complex architectural features with significant consequences for understanding human evolution and biological function.
Researchers at UCI have made a breakthrough in understanding the Taq enzyme, which is crucial for DNA sequencing. They found that Taq behaves unexpectedly, rejecting correct bases more frequently than expected. This discovery has significant implications for personalized medicine and the accuracy of sequenced genomes.
Scientists developed a powerful new tool called Giraffe to improve genomic research by leveraging global genetic diversity. The tool allows for the use of a diverse pangenome reference point, enabling faster and more sensitive comparisons of short-read human genome sequences.
A research group at the University of Helsinki has discovered the logic controlling gene regulation in human cells. They found that individual transcription factors contribute to gene regulation in an additive manner and identified regulatory elements that function within closed chromatin regions.
Researchers sequenced genes expressed in individual single cells from human GI tracts, revealing new cell-type characteristics and gaining insights into important cell functions. The study opens the door to exploring gut health in a more precise manner at greater resolution than ever before.
Humans developed natural genetic resistance to anthrax by having a diet of more ruminants and experiencing agricultural practices, leading to fewer anthrax receptors. European populations showed an even greater reduction in anthrax receptor expression compared to other human populations.
Researchers create detailed atlas of mouse cerebrum, revealing distinct cell types and gene regulatory elements. The study provides insights into brain organization and function, with potential implications for human neurological diseases and traits.