Articles tagged with Human Genome Sequencing
A new DNA test has been developed to identify the genetic causes of inherited muscle disease, offering hope for diagnosis and treatment for thousands of Australians. The test, which uses long-read sequencing, screens over 300 genes and detects complex genetic changes that older tests miss.
Researchers have reconstructed a real person's complete genome, filling critical gaps and enabling the analysis of unique genomes at higher accuracy. This breakthrough is expected to improve genetic disease diagnosis and make personalized genomics routine in medical care.
Researchers at Salk Institute create a body-wide single-cell atlas of two major epigenetic systems, revealing that cell-type-specific epigenetic features can affect disease risk. The study identifies over 1.36 million differentially methylated regions and 283,606 differential chromatin loops across the human body's cell types.
Researchers found a high frequency of MIR142 gene mutations (37.1%) in primary CNS DLBCL, exceeding systemic DLBCL data. The study suggests that these mutations may disrupt miRNA function and require further investigation for potential clinical applications.
Researchers have discovered a previously underappreciated mechanism that helps immune cells respond rapidly to infections by altering RNA splicing. This study provides new insights into immune-mediated diseases such as rheumatoid arthritis and lupus, and may lead to more targeted therapies.
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.
The program achieved a definitive genetic diagnosis in nearly half of enrolled children, identifying pathogenic variants across 330 genes. Families received timely diagnoses, allowing accurate genetic counseling and informed reproductive choices, while guiding clinical management and opening access to targeted therapies.
Researchers created detailed maps of the human genome's three-dimensional organization across time and space, revealing how genes interact and fold as cells function. The study provides a powerful framework for predicting which genes are likely to be affected by pathogenic variants.
Researchers analyzed DNA of 28 ancient southern Africans, finding 490 modern human-specific genetic variants, including immune system and kidney function genes. These adaptations may be related to human's water-retention and body-cooling system, giving special endurance.
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.
A new precision genomics initiative is launching to improve pediatric cancer diagnostics and research. The BrightSeq platform aims to deliver actionable genomic findings to care teams while accelerating research through robust sample acquisition.
A recent study has expanded the human genome's catalogue of large genetic variation, discovering over 167,000 structural variants across 1,019 individuals from 26 populations. The findings have improved the accuracy of genetic diagnoses for rare diseases and cancers.
Researchers have created a novel sequencing technology, NTD-seq, that enables the direct mapping of 5-methylcytosine in genomic DNA. The method, which uses an enzyme to deaminate cytosine and preserve 5mC, shows strong concordance with existing maps and offers a powerful tool for studying epigenetic modifications.
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.
Experts uncover biological secrets of Leonardo da Vinci through 30 years of genealogical research, revealing genetic continuity of the Da Vinci male line since the 15th generation. The study also confirms the existence of a Da Vinci family tomb and analyzes DNA samples from six living descendants.
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.
A team of researchers has developed a comprehensive atlas of genetic change through generations, revealing that parts of the human genome change much faster than previously known. This discovery has significant implications for understanding human disease and evolution, including the roots of genetic diseases.
A new genomics tool, refget Sequence Collections, streamlines genomic research by standardizing reference sequences. This enables scientists to compare data more efficiently and accelerate medical breakthroughs.
Researchers used genetic data and computational tools to identify genetic variants associated with asthma, finding differences between childhood- and adult-onset forms of the disease. The study provides insights into potential treatment targets for both types of asthma.
Researchers found evidence of a genetic mixing event between two ancient populations around 1.5 million years ago, which contributed to the modern human species. The study suggests a more complex story of human evolution than previously thought, with different groups developing separately before reuniting.
The Human Pangenome Reference Sequencing Project aims to accurately reflect human genetic diversity worldwide. With $14 million in NIH funding, the project will add genomes from an additional 200 individuals to its existing dataset of 550 diverse backgrounds.
A new k-mer sketching metagenomic profiler called sylph has been developed at Carnegie Mellon University, allowing for faster and more precise analysis of genomic data. The method breaks bacterial genomes into smaller subsamples and compares them to the initial sample, enabling the detection of rare genomes present in the sample.
Scientists have discovered multiple instances of genetic interbreeding between Denisovans and modern humans, shaping early human history. Denisovan genes confer advantages in distinct environments, such as tolerance to low oxygen conditions and heightened immunity.
A new chromosome-scale reference genome of grass pea has been published, improving on earlier draft assemblies and offering potential for climate-smart agriculture. The updated genome allows for improved breeding and gene editing to develop varieties with improved agronomic characteristics or low toxin content.
A new study finds that the gene for starch-digesting saliva may have first duplicated more than 800,000 years ago, seeding genetic variation that shapes modern diet. This early duplication set the stage for significant variation in the amylase region, allowing humans to adapt to shifting diets with increasing starch consumption.
Researchers at HudsonAlpha Institute for Biotechnology will use long-read genome sequencing to identify genetic contributors to rare diseases in children. The technology has shown promise in uncovering relevant genetic findings in undiagnosed cases, with early studies suggesting a 5-10% diagnostic success rate.
The RENEW system, launched in 2022, uses new research discoveries to pinpoint genetic variants causing rare diseases. Researchers successfully diagnosed 63 patients out of 1,066 undiagnosed cases with an average diagnosis time of 20 seconds.
A genomic study has revealed the unimaginable diversity of human and nonhuman primate centromeres, highlighting their speed of evolutionary change. Centromeres differ vastly in size, structure, and epigenetic makeup, with unique sequences and organization emerging from different evolutionary forces.
A Kyoto University research group developed RENGE, a computational model to estimate gene regulatory networks in multicellular organisms. The method measures time-series gene expression and uses the proprietary model to infer regulatory dynamics.
The study of ancient genomes has shed light on the evolution of modern humans, revealing genetic changes that distinguish us from Neanderthals and Denisovans. These findings suggest that population-level advantages, such as increased connectivity and access to resources, played a significant role in shaping human migration patterns.
A recent study published in Cell Genomics has uncovered the quantitative and qualitative mutational impacts of ionizing radiation on normal cells. The research team found that exposure to low levels of radiation resulted in an average of 14 mutations per cell, primarily causing short base deletions and complex genomic rearrangements.
Researchers discovered that people carrying three Neanderthal gene variants in the SCN9A gene are more sensitive to certain types of pain. The study found an association between the variants and a lower pain threshold in response to skin pricking after prior exposure to mustard oil.
Researchers have developed a new method to analyze protein production in cells using ribosome profiling, which has the potential to advance cancer research. The technique identifies previously unknown protein coding regions and allows for a clearer picture of protein production rate and location.
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.
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 developed a primer scheme for the human monkeypox virus that can be easily integrated into existing sequencing and bioinformatics infrastructure. This approach enables public health laboratories to rapidly adapt their genomic workflows in response to new outbreaks.
Researchers from UTHSC have made a foundational discovery about chromosome biology through their work on the first-ever human pangenome reference. The draft pangenome uses complete genome assemblies to provide a diverse look at the genetic makeup of humans, shedding light on variation in parts of the genome that could not be seen before.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
A new human pangenome reference has been created, capturing significantly more human diversity than the previous single reference. The reference includes genome sequences of 47 people and aims to increase that number to 350 by mid-2024.
Scientists have assembled a pangenome of genomic sequences from 47 people worldwide, revealing nearly 120 million DNA base pairs previously unseen. This breakthrough collection represents significantly more accurate human genetic diversity than ever captured before.
Researchers have released a high-quality collection of reference human genome sequences capturing substantially more human diversity. The new pangenome includes genome sequences of 47 people, with the goal of increasing that number to 350 by mid-2024.
A new study led by UCL researchers finds that a particular gene affecting nose shape is inherited from Neanderthals and may have been influenced by natural selection. The study used data from over 6,000 volunteers and identified 33 genome regions associated with face shape.
Researchers create high-resolution maps of the 3D genome, revealing interactions between enhancers and promoters that weren't previously seen. The findings suggest many genes interact with dozens of regulatory elements, opening possibilities for studying gene regulation and potentially understanding diseases.
Researchers have developed a new technology to sequence individual mitochondria in single cells, allowing for unbiased analysis of full-length mtDNA. This has revealed complex patterns of pathogenic mtDNA mutations and the potential risks of off-target mutations in genetic editing strategies.
Researchers have created a new tool, EN-TEx, to analyze genetic mutations and predict disease risk. The catalog of allele-specific variants provides rich data for accurate personal genomics, enabling scientists to study the effects of genetic mutations in tissues that are difficult to obtain without surgery.
A genomic study of ancient humans on the Tibetan Plateau reveals a single origin for ancient humans, deriving from a northern East Asian population. The study also found distinct genetic patterns in different regions of the plateau, indicating three regional groups with unique historical patterns that began to merge after 2500 BP.
Researchers found that severe herpesvirus infections can strongly activate host cellular immunity, leading to a therapeutic effect on refractory adult T-cell leukemia/lymphoma. This activation may play an important role in the survival of patients with this intractable disease.
Verkko software assembles gapless human genome sequences quickly and precisely, enabling better assessment of genomic diversity and comparative genomics. This innovation accelerates efforts to generate complete genome sequences of various species, improving research and discovery in the field.
A study published in PLOS ONE found that common microbiome analysis techniques can yield erroneous results due to incomplete DNA databases. The researchers used computer simulations to test the consistency of current methods, showing that a large number of detected species are not actually present in the community.
A study found white-tailed deer are harboring SARS-CoV-2 variants that were once widely circulated but no longer found in humans. The deer may have become infected through contact with humans, and the virus has adapted to the deer population, potentially making it more transmissible between them.
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.
Research by Uppsala University and Swedish University of Agricultural Sciences links atopic dermatitis in dogs to specific genome regions. The study identifies genes coinciding with human atopic eczema, including the filaggrin gene region.
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.
A team of Duke researchers identified a group of human DNA sequences regulating genes that seem to have evolved rapidly after our family line split from that of the chimpanzees. These changes were fine-tuned over time and appear in brain development, digestion and immunity.
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.
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.
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.
The study found 600 million SNPs and indels in 150 thousand genomes, corresponding to 7% of the theoretical possible variants. This large dataset allowed scientists to separate regions tolerant to sequence diversity from those not, shedding light on human survival and procreation.
Researchers sequenced ancient human fossils from southern China, revealing a link to the East Asian ancestry of Native Americans. The findings propose that some southern East Asia people migrated north and crossed the Bering Strait to become the first people to arrive in the New World.