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I want to talk about databases and their importance for #bioinformaticians 👩💻. #databases are useful for collecting and organizing different data types in a structural format 📚, facilitating their application in many fields, like #biomarker discovery, #AI models, and #drugdiscovery. The problem behind databases is understanding all information, Identifiers (#IDs) are different between databases, or the cleaning process... 😖 Today, I want to show you some databases that I have worked on. 1-     #DisgenetPlus (https://lnkd.in/gYdsx6pc) is a database created by MedBioInformatics Solutions. This is one of the most comprehensive databases that include genes associated with diseases (1,770,610), genetic variants associated with diseases (1,119,130), and disease-disease associations (45M). Disgenet plus is updated every three months, and it includes drug information, associating 3,530 chemicals with genes, genetic variants, and diseases. They have a mapping of IDs to work with other databases! Databases that could be complemented with #DisgenetPlus or similar are #MONDO, Human Phenotype Ontology (#HPO), Online Mendelian Inheritance in Man (#OMIM), and #Monarch 🤒. 2-     Gene ontology (#GO) is the largest source of information on gene function. Other sources similar to GO are, #Reactome, #Panther, and #KEGG 🕸. 3-     Human Protein Atlas (#HPA) is a database that maps all human proteins in cells, tissues, and organs. A similar database is #UBERON 🧠. 4-     #IntAct is focused on the collection of interactions between proteins 🍻, including more than 2 Million protein interactions. Other databases similar to IntAct are #BioGRID, #STRING, #MINT, and #DIP. 5-     There are databases focused on gene characterization such as GeneCards Suite 🧬. #GeneHancer is one of these databases that integrates information on enhancers and promoters of target genes. 6-    Databases that collect genetic variants 🧬, such as #dbSNP or #dbVAR. #1KGenomes phase4 includes more large genetic variants than the phase3 version. #GCAT project has a database of genetic variants from the Iberian population, including SNVs to Structural variants. Other famous sources are #GenomAD, #TopMed, #UK10K, #HRC, #GONL, and GWAS Catalog. 7-     Databases focused on drugs 💊, such as #ChEMBL, which includes among other data, the protein targets of chemicals. Other similar databases are, DrugBank, #DrugCentral, #Papyrus, Comparative of Toxicogenomics Database (#CTD), or #STITCH. Other databases collect the side effects of drugs, such as #SIDER, #OFFSIDES, #MEDEFFECT, #FAERS, #ADReCS, and #DailyMed. Or others that include genetic information that can be introduced in pharmacogenomics analyses such as #PharmaGKB This is an example of a large number of databases that my mates in MedBioInformatics Solutions and I can work or we have experience with 💡. I will do a poll 📋 to do a tutorial on how I work in one database. If you have questions contact me! 📧

Genetic testing has witnessed a remarkable surge in utilization, fueled by advancements in technology, increased awareness, and a growing understanding of the role genetics plays in disease risk assessment, prevention, and personalized treatment strategies. Genetic testing is revolutionizing healthcare and to help health plans keep pace, HealthHelp recently launched a Genetic Testing Utilization Management (GTUM) program in collaboration with InformedDNA. With advancements in lab testing and a better understanding of genetics, genetic testing has become crucial in assessing disease risk, preventing illnesses, and personalizing treatment strategies. However, integrating this into appropriate patient care comes with challenges that we're ready to tackle head-on. Our GTUM program utilizes trusted guidelines and is supported by the nation's largest organization of full-time, lab-independent board-certified genomics specialists. We provide coverage across all genetics specialties and every state, ensuring you have access to the highest quality genetic testing services. Curious to learn more about this groundbreaking program? Click the link below to explore the benefits of partnering with HealthHelp to manage your health plan's genetic testing spend. 🔗 Link: https://bit.ly/3S9WZ1i #GeneticTesting #HealthHelp

Genetic testing has witnessed a remarkable surge in utilization, fueled by advancements in technology, increased awareness, and a growing understanding of the role genetics plays in disease risk assessment, prevention, and personalized treatment strategies. Genetic testing is revolutionizing healthcare and to help health plans keep pace, HealthHelp recently launched a Genetic Testing Utilization Management (GTUM) program in collaboration with InformedDNA. With advancements in lab testing and a better understanding of genetics, genetic testing has become crucial in assessing disease risk, preventing illnesses, and personalizing treatment strategies. However, integrating this into appropriate patient care comes with challenges that we're ready to tackle head-on. Our GTUM program utilizes trusted guidelines and is supported by the nation's largest organization of full-time, lab-independent board-certified genomics specialists. We provide coverage across all genetics specialties and every state, ensuring you have access to the highest quality genetic testing services. Curious to learn more about this groundbreaking program? Click the link below to explore the benefits of partnering with HealthHelp to manage your health plan's genetic testing spend. 🔗 Link: https://bit.ly/3Qjw16m #GeneticTesting #HealthHelp

Did you know, more than 80% of the 10,000+ known #rarediseases have a #genetic component? In fact, many rare diseases are #monogenetic, meaning that a misspelling in a single location of the genetic code is the root cause of the disease. As the genetic basis of many rare diseases is increasingly well-understood, and technologies to correct these misspellings through #genetherapy and #geneediting evolve, tantalizing new hope for therapies and cures emerges. Still, 'variants of unknown significance' - genetic aberrations that may, or may not, be disease-causing - continue to be a frequent occurrence for rare disease patients that causes considerable challenges for both patient care and research. The problem is particularly pronounced for individuals who are not of European consent given the historic lack of diversity, equity, and inclusion #DEI in #clinicalresearch and hence the scarcity of genetic and genomic data for these populations subgroups. Luckily, the U.S. Department of Veterans Affairs #VA's Million Veterans Program is designed to change that. Encouragingly, about a third of the more than 635,000 enrollees are genetically similar to African, Admixed American, and East Asian reference populations, and the richness and scope of the dataset, which linked electronic health record #EHR data to the genetic data, is unprecedented. The data provides important insights into normal variation, as well as putative disease-predisposing mutations, in this diverse cohort that more accurately reflects the true diversity in the U.S. population than many #clinicaltrials. Moreover, it serves as a powerful reminder of WHY #clinicaltrialdiversity is so important, and why FDA and The National Institutes of Health need to continue to prioritize appropriate representation in #clinicalresearch. Read the publication in Science Magazine here: https://lnkd.in/eNqsFsxh

🧬A study analyzing data from over 1,500 individuals has identified 34 new genetic diseases using AI-powered techniques. This remarkable achievement unveils the genetic causes for nearly 500 patients, paving the way for improved diagnostics and personalized treatments. The integration of next-gen sequencing and AI highlights the immense potential of technology in transforming healthcare. #RareDiseaseResearch #Genetics #AIinHealthcare #Innovation #MedicalBreakthroughs Read more: https://lnkd.in/ev9XyXPY

Reasons and Resolutions for Inconsistent Variant Interpretation The article highlights inconsistencies in genetic #variantinterpretation across labs and clinical sites, recommending resolutions through regular reanalysis, data sharing, and clearer criteria. #genetictesting https://lnkd.in/dTsuVh_b

Our SBayesRC method is now published in Nature Genetics! SBayesRC is a full Bayesian method for polygenic score prediction that can analyse all common variants jointly with functional annotations in a single step. Congrats Zhili Zheng! It significantly improves prediction accuracy across complex traits and common diseases in both European and non-European populations. Annotation data provide comparable information to the use of another GWAS dataset of the target ancestry. Findings reveal a significant interaction between the use of annotation data and SNP density, suggesting potential benefits of using sequence variants with annotations for prediction. PGS partitioning analysis highlights a major contribution of evolutionary constrained regions to prediction accuracy and the largest per-SNP contribution from non-synonymous SNPs.

Historical moment: Launching of #PanOmiQ WGS : FASTQ File to Clinical Report with suggestions in 7 hrs VCF file to Clinical Report with suggestions in 15 mins MicroBiome (ANY): Raw file to Clinical Report in < 3 hours Step 1: Sequence Step 2: Upload Data Step 3: Have a break, go for walk and breathe 🧘♀️ Step 4: Download Reports in PDF and other formats, and share with Doctors and Patients. What’s your excuse now? Use #PrecisionHealth for #HealthSpan and #Longevity? Beat Cancer, Heart Disease and others? Get ahead and upgrade your hospitals. #Biongevity is possible with PanOmiQ BioAro Inc. : Disrupting Healthcare Globally #AI #Quantum Harish Consul Raees Tonse, MD, MBA Ruchi K Bindra George P. Patrinos Dr. Divya Mishra Sidharth Singh Bhinder Raja B. Singh Minal Borkar Tripathi Alina Semenenko Neda Khaledi (PhD) Raman Kapoor Sreemol V Eldhose Nishanth Saseendran Preethi Balasundaram Patrick Kirkwood

Along with the massive growth of genomic data, we have seen impressive advances in the healthcare realm, pushing the boundaries of what previously seemed impossible. Yet, amidst this progress, two ethical questions remain at the back of our minds: who do we collect genetic data from, and how can we use it appropriately? In this month’s edition, we feature articles that discuss equity gaps in healthcare and suggest frameworks to address them. Want to learn more? Visit: https://lnkd.in/gpa3Eu49 #Equity #Genetics #Genomics #Medicine #Diagnosis #Health #Medicine #Disease #Biology

In the genesis of XYGene lies a deeply personal journey—one driven by the quest for a better way to navigate the complexities of genetic healthcare... When one of our co-founders learned that his wife had inherited Li Fraumeni syndrome, a rare genetic disorder, it sparked a profound realization. Genetic testing revealed that two of their children also carried the genetic mutation, propelling the family into a maze of genetic counseling and healthcare systems. Despite encountering skilled care teams along the way, they faced a recurring challenge: each transition between health systems felt like starting anew. This perpetual cycle of education and re-education consumed valuable time and created unnecessary friction in their healthcare journey. Fueled by the conviction that there had to be a more seamless approach, XYGene was born. Our mission? To empower healthcare providers with streamlined access to critical patient information, without adding to their burden. After years of dedication, we've honed a platform that facilitates the flow of diagnostic and treatment information, equipping providers and patients alike with the knowledge needed to navigate healthcare journeys with ease. In a world ripe with potential, XYGene is bridging the gap between scientific advancements and clinical practice. Our journey is fueled by the desire to empower providers, improve patient outcomes, and transform the landscape of healthcare delivery. Join us on this transformative journey as we harness the power of data to drive innovation and redefine the future of healthcare. #HealthcareInnovation #GeneticHealth #XYGene #HealthTech #EmpoweringProviders #PatientCare #TransformingHealthcare