MGI的动态

Thousands of hidden 'dark genes' in human DNA uncovered ?? Revealing the unseen New work in preprint (see link below) identified thousands of previously unknown 'dark genes' within human DNA, which code for small proteins involved in critical processes like cancer and immune responses. This finding challenges the notion of 'junk DNA' and underscores the genome's complexity. #Genomics #CancerResearch ?? Implications for medicine The discovery of these hidden genes opens new avenues for understanding disease mechanisms, diagnostics and patient classification for various conditions. #MedicalResearch #Therapeutics ?? Advancing genetic research This work highlights the importance of continuous genomic exploration, suggesting that our genetic blueprint is more complex than previously thought. #GeneticResearch #Biotechnology ?? Probably these mini-proteins have a wide-variety of function in different systems. It would be interesting to see over-time in the same person if these genomic regions are actually stable to mutations/SNPs. Source: https://lnkd.in/eWvy44sN

At Baylor Genetics, we're committed to leveraging the power of genetic insights to better serve patients and families impacted by rare diseases. ? Join us on September 5 for a special 30-minute webinar, where our experts, Dr. Christine Eng, and Dr. Xiaonan Elsa Zhao, PhD, FACMG, DABMGG, will delve into the transformative role of RNA sequencing (RNAseq) in enhancing insights from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS). ? Our discussion will cover: - The evolution and growing importance of RNAseq in clinical applications. - The rigorous testing processes we employ at Baylor Genetics. - How RNAseq has provided clarity on variants identified through WES/WGS, leading to more accurate diagnoses. ? We hope you can join us: https://lnkd.in/ggZaDAgA ? #GeneticTesting #RNASequencing #RareDisease

First tandem repeat expansions genetic reference maps A research team has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers. The Tandem Genome Aggregation Database enables researchers to study how these mutations – called tandem repeat expansions – are connected to diseases, to better understand health disparities and to improve clinical diagnostics. The study, published online in the journal Cell, introduces the TR-gnomAD, which addresses a critical gap in current biobank genome sequencing efforts. Although TR expansions constitute about 6 percent of our genome and substantially contribute to complex congenial conditions, scientific understanding of them remains limited. #ScienceMission #sciencenewshighlights https://lnkd.in/ganhC32F

First tandem repeat expansions genetic reference maps A research team has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers. The Tandem Genome Aggregation Database enables researchers to study how these mutations – called tandem repeat expansions – are connected to diseases, to better understand health disparities and to improve clinical diagnostics. The study, published online in the journal Cell, introduces the TR-gnomAD, which addresses a critical gap in current biobank genome sequencing efforts. Although TR expansions constitute about 6 percent of our genome and substantially contribute to complex congenial conditions, scientific understanding of them remains limited. #ScienceMission #sciencenewshighlights https://lnkd.in/gtb92dR3

Many missense genetic variants — DNA changes that alter which amino acid is found at a particular spot in a protein — are associated with disease, but how they impact protein function has not been systematically investigated. In Cell, Marzieh Haghighi and Anne Carpenter, together with colleagues including Jessica Lacoste and Mikko Taipale, developed a high-throughput imaging platform for this purpose. One in six of about 3,500 pathogenic missense variants they studied led to protein mislocalization, mainly by disrupting protein stability. Certain protein distribution patterns were associated with more severe disease and pleiotropy, when a single gene affects multiple traits. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

Attention Parkinson's disease researchers! Don't miss this fantastic webinar showcasing how accurate long-read sequencing can revolutionize your research. Discover insights to accelerate your breakthroughs. Register now and join us!

?? I am excited to share our latest publication in Database : "An interactive web application for exploring systemic lupus erythematosus blood transcriptomic diversity." ?? We have developed an interactive web app that makes exploring blood transcriptomic data for systemic lupus erythematosus easier than ever. Whether you are a researcher or simply curious, you can easily explore gene expression by functional modules through various visualization modes and connect these data to relevant clinical features. ?? Discover the app and start exploring SLE diversity here : https://lnkd.in/eDs3VBey ?? Read the full article for more details : https://lnkd.in/eb9_s_5m ?? Many many thanks to Darawan Rinchai, Damien Chaussabel, Noemie Jourde-Chiche, Laurent Chiche, and Divi Cornec for this great team work and their mentorship throughout this project. LBAI - B Lymphocytes, Autoimmunity and Immunotherapies - Inserm U1227 #SLE #Bioinformatics #BloodGen3Modules #RShiny #LupusResearch

June is Brain and Headache Awareness Month. To raise awareness, we have a throwback paper that emphasizes the significance of full-length PacBio sequencing in neuronal research. ?? The paper discusses the full-length transcript sequencing of the human and mouse cerebral cortex. Isoform-level transcripts were crucial in discovering widespread transcriptional diversity across the cortex and identifying novel gene isoforms associated with human brain disease. Explore more in the paper here: https://bit.ly/3VDB0lj #BrainMonth #PacBio #RNAIsoforms

?? What makes whole-genome sequencing a game-changer in STXBP1 research? Whole-genome sequencing (WGS) is transforming STXBP1 research by providing a comprehensive view of a person’s DNA. Acting like a genetic detective, WGS scans the entire genome to uncover mutations in the STXBP1 gene. These can include: 1???Small changes in DNA letters 2???Missing or extra pieces of DNA 3???Larger rearrangements of genetic material This precise understanding helps researchers pinpoint the genetic differences contributing to STXBP1-related disorders. By connecting genetic changes to patient symptoms, WGS helps scientists uncover how specific STXBP1 mutations shape development and health. It also reveals previously unknown variations in the gene, broadening our understanding of this complex disorder. Beyond pinpointing mutations, WGS offers a big-picture view of how STXBP1 interacts with other genes, shedding light on brain function and development. This powerful tool drives the development of personalized treatments and targeted therapies. By decoding the genetic mechanisms of STXBP1-related disorders, WGS is unlocking breakthroughs in care and opening doors to future genetic therapies.?? #STXBP1Research #Genomics #PrecisionMedicine #RafasMoonshot

?? Karyotyping: A Window into Our Genetic Blueprint ?? Karyotyping is a powerful technique that allows us to visualize and analyze chromosomes, revealing critical information about genetic health. From diagnosing chromosomal abnormalities to guiding cancer research, this tool provides insights that are crucial in medical and scientific advancements. Understanding our DNA structure opens doors to better healthcare and personalized treatment plans. ??? #Karyotyping #Genetics #Biotechnology #HealthcareInnovation #GenomicResearch #BioByPriti #LaboratoryScience