Researchers identified lanosterol as a key molecule in preventing lens protein aggregation, a major factor in cataract formation. Treatment with lanosterol significantly decreased preformed protein aggregates and reduced cataract severity in animal models.
A metagenome-wide association study uncovered markers in the oral and gut microbiomes that are associated with rheumatoid arthritis (RA). The study found that Haemophilus sp. is depleted in RA patients and Lactobacillus salivarius is over-represented, suggesting potential new targets for diagnosis and treatment.
An international team of researchers has identified two robust genetic variants associated with major depressive disorder (MDD). The study, published in Nature, found that these variants are located on chromosome 10 and may be linked to mitochondrial function.
A new approach developed by scientists from the China National Genebank (CNGB), BGI-Shenzhen demonstrates the value of mitochondrial genome databases in detecting wild bees in UK farms. The method uses mitogenome references to analyze 'bee soup' DNA, providing a more accurate and efficient way to track population trajectories.
Researchers from BGI Shenzhen assembled a 5.15 Gb genome with a haplotype N50 of 484 kb, providing exhaustive variants information and novel sequences/genes. This achievement enables the development of new sequencing and assembly techniques for complex genomes.
A recent study published in the New England Journal of Medicine found that BGI's NIFTY test outperformed other noninvasive prenatal screening tests. The test correctly detected 81% of cases with nonmosaic karyotypes, while incorrectly identifying 17% of trisomy 21 and XXX/XXY abnormalities as positive.
A large-scale study confirms BGI's NIFTY test accuracy for trisomy 21, 18, and 13 in nearly 147,000 pregnancies, showing high sensitivity and specificity. The study also found that high-quality NIPT service can be achieved with strict protocols and standards.
Researchers identified a set of gene loci responsible for thermostatic regulation in Chinese pigs, highlighting the importance of introgression in adaptation. The study found that adaptations to cold and hot environments were triggered by interspecies introgression, providing insights into evolutionary history and adaptation mechanisms.
The Tenth Annual Meeting of the International Conference on Genomics will focus on breakthroughs and advancements in 'omics' research transforming scientific discoveries into better health. Confirmed plenary speakers include prominent figures in the field, highlighting the most influential topics and practical applications.
An international team has sequenced and compared full genomes of 48 bird species to resolve the timing and relationships of modern birds. The study suggests that only a few bird lineages survived the mass extinction event, giving rise to the 10,000 Neoaves species that comprise 95% of all bird species.
The Jujube genome has the highest degree of heterozygosity among sequenced plants, but BGI Tech's sequencing technology successfully decoded 98.6% of its genes, identifying 32,808 genes. This breakthrough will facilitate genetic improvement and selective breeding of Buckthorn fruit trees.
A team of international researchers used DNA sequences to reconstruct the evolution of plants, revealing new insights into their relationships and adaptations. The study, part of the One Thousand Plants initiative, generated millions of gene sequences from diverse plant species.
A team of researchers has identified a novel ion transporter gene, GmCHX1, linked to salt tolerance in wild soybean. This discovery provides an effective strategy for uncovering novel genomic information for crop improvement.
Researchers developed a new genome editing method, TALEN-HDAdV, which increases gene-correction efficiency in human induced pluripotent stem cells. This technology has the potential to model human diseases and develop cell replacement therapy, offering hope for treating genetic diseases.
Researchers have established a comprehensive catalog of the human gut microbial genes, with over 9.8 million genes available for global researchers to explore. The study highlights differences in nutrient metabolism and xenobiotic detoxification between Chinese and Danish adults, as well as enrichment in antibiotic resistance genes.
Researchers found a highly differentiated haplotype of the EPAS1 gene in Tibetans that is similar to the Denisovan genome. This suggests that Tibetans' ancestors may have interbred with Denisovans, allowing them to adapt to high-altitude environments.
The pig whipworm genome sequence provides a genetic resource for investigating human autoimmune diseases, including inflammatory bowel disease and multiple sclerosis. Researchers found microRNAs regulating sexual development and secretory proteins with anti-inflammatory properties.
A recent study published in Science has sequenced the sheep genome, providing new insights into ruminant evolution and lipid metabolism. The researchers found a previously unrecognized gene LCE7A associated with wool formation and identified key genes involved in keratinized epidermal structure development.
The first termite genome has been published, revealing new insights into the molecular underpinning of complex societies in termites. The study found expanded gene families involved in spermatogenesis and a different repertoire of chemoreceptor genes compared to other insect genomes.
Researchers sequenced and assembled the Gossypium arboreum genome, revealing its genetic mechanisms underlying complex polyploidization. The study also identified key genes modulating fiber growth and found connections to Verticillium dahliae resistance.
Researchers analyzed 79 Greenlandic polar bears and 10 brown bears to uncover genes involved in the polar bears' adaptation to life in the high Arctic. The study found that the polar bear diverged from brown bears less than 500,000 years ago and developed unique adaptations to cope with a high-fat diet.
Chinese researchers have discovered several key genetic mutations closely associated with adrenocortical tumors, including the activating hotspot L205R mutation in PRKACA gene. These findings provide new insights into the clinical diagnosis and treatment of Adrenal Cushing's syndrome.
Researchers from Chinese Academy of Medical Sciences and BGI Shenzhen identified important alterations of tumor-associated genes and tumorigenic pathways in esophageal squamous cell cancer. They found 8 significantly mutated genes related to ESCC, including a novel gene FAM135B that enhances cellular malignant phenotypes.
The genome of the queenless clonal raider ant provides insights into social evolution and behavior. Researchers found that nestmates are almost clonally related and reproduce asexually, with genomic heterozygosity lost slowly.
Researchers decoded the flatfish genome, providing insights into ZW sex chromosome evolution and benthic adaptation. The study also uncovered epigenetic mechanisms underlying temperature-dependent sexual reversal and trans-generational inheritance of such phenomena.
Researchers sequenced the locust genome, revealing a large and complex genetic makeup. The study found that repetitive elements made up 60% of the genome and were highly methylated, suggesting a role in phase change and swarm behavior.
Researchers discovered the recurrent T372R mutation in YY1 transcription factor is associated with insulinoma oncogenesis, suggesting a potential marker for diagnosis and treatment. The study found that 31 out of 103 cases had the T372R mutation, which enhances YY1's transcriptional activity.
Researchers sequenced the whole genome of desert poplar, revealing genetic mechanisms underlying its salt stress tolerance. The study provides new insights for breeding salt-tolerant cultivated poplars.
The study provided evidence of stress-responsive genes and anaerobic metabolism in whales, which helped them adapt to ocean environments. The researchers also found that baleen-forming genes were pseudogenes in whales, suggesting a unique evolutionary path.
Researchers analyzed 21,309 Chinese individuals and identified only two independent low-frequency coding variants with moderate effect on disease risk. These findings suggest that the overall genetic risk for psoriasis is largely driven by other factors, contradicting previous assumptions about the role of coding variants.
The 8th International Conference on Genomics (ICG-8) brought updates on research using affordable genomics technologies, focusing on personalized medicine, computer breeding, and open platforms. Researchers discussed disease mysteries and explored the potential of clinical trans-omics for eliminating threats.
Researchers from Nanjing Normal University and BGI report their original genomic research on the Yangtze River dolphin, providing valuable resources for conservation. The study reveals genetic and evolutionary adaptations, including accelerated evolution of genes involved in oxygen carrying and sensing.
A new collaboration describes a new centipede species using a holistic approach combining 3D imaging, DNA barcoding, transcriptomic profiles, and video of the living specimen. The 'cyber-type' allows for global access to the specimen's data, enabling faster conservation efforts.
Researchers identified frequent genetic alterations affecting sister chromatid cohesion and segregation, leading to chromosomal instability and aneuploidy in bladder cancer. The study provides evidence for a novel therapeutic approach using targeted therapies.
The study provides an invaluable resource for big cat conservation by sequencing the genomes of tigers, lions, leopards, and domestic cats. Key findings include genetic similarities between big cats and humans, as well as unique adaptations to high-altitude environments.
Researchers identified two groups of individuals distinguished by the richness of their gut microbiota, with those having a poor gut microbiome being more likely to experience obesity and related metabolic issues. The study also found that certain bacterial species may play a protective role against weight gain.
A team of researchers from BGI Shenzhen has made a groundbreaking genetic discovery in sorghum, revealing the crop's vast genetic variation and complex domestication history. The study provides a valuable resource for the genetic improvement of sorghum and other grass species.
A study published in the American Journal of Human Genetics found that whole-genome sequencing can identify genetic mutations associated with chronic mountain sickness. Researchers sequenced the genomes of Andean individuals and identified two genes, ANP32D and SENP1, which play a key role in hypoxia tolerance.
The Chinese alligator genome has been sequenced, revealing adaptations for living in both water and land habitats and providing insights into the species' unique features. The study also sheds light on temperature-dependent sex determination and immune system development.
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.
Researchers sequenced the genome of a 700,000-year-old horse fossil, revealing that all modern horses originated around 4.0-4.5 million years ago. The study also found evidence of demographic fluctuations in horse populations over the past two million years.
Researchers found TP53 as the most commonly mutated tumor suppressor gene in hepatocellular carcinoma, leading to poor survival outcomes. The study also identified the Wnt/β-Catenin signaling pathway as a major oncogenic driver in liver cancer.
Researchers have sequenced the duck genome and conducted transcriptomic studies to understand the interactive mechanisms between the host and influenza viruses. The study identified novel genes not present in other birds and found alterations in gene expression patterns in response to avian influenza viruses.
Researchers have decoded the genome of Tibetan antelopes, revealing genetic factors associated with high-altitude adaptation. The study found that gene categories involved in energy metabolism play a crucial role in the species' survival at extreme elevations.
Researchers sequenced soft-shell turtle and green sea turtle genomes to study evolutionary history and development of unique anatomical features. They found evidence that turtles diverged from archosaurians around 267.9-248.3 million years ago and developed superior olfaction ability.
Two studies published in Nature provide unprecedented insights into the biology of wheat, shedding light on its adaptation and domestication. The research reveals the importance of transposable elements and microRNAs in shaping the genome, as well as their potential applications in improving crop yields and disease resistance.
Researchers sequenced and analyzed the genomes of peregrine and saker falcons, uncovering key adaptations that enable their success as predators. The study sheds light on the evolution of these iconic birds' morphological, physiological, and behavioral traits.
Two recent studies published in Nature provide unprecedented insights into the biology of wheat, shedding light on its adaptation to diverse climates and improving grain quality. The research revealed the role of repeat expansion in genome size during evolution and identified key genes for abiotic stress response, providing a valuable ...
Researchers have sequenced the wild rice genome, revealing the silencing of retrotransposons and massive internal deletions that led to its compact genome. The study also found expanded gene families in cultivated rice due to tandem duplications and gene movements.
The Chinese tree shrew genome sequencing provides new insights into facilitating biomedical researches, particularly in studying hepatitis C virus and depression. The study reveals that tree shrews have a higher brain to body mass ratio than humans and share genetic features with primates.