Almaden Genomics’ Post

Estonian Biobank to Sequence 10,000 Genomes as Part of Precision Medicine Project. 🧬🥽 Genome sequencing can provide much more in depth information than genotyping and this project will help with Estonia’s efforts to rollout precision medicine in the country by providing a broader and more diverse genetic dataset.  💊🏥 READ MORE 👇 #ResearchInEstonia #EstonianResearchCouncil #EestiTeadusagentuur #Estonia #Science #Innovation #Sustainability #EstonianInnovation #EstonianScience #EstonianResearchers #EstoniaTech #EstonianRnD #InnovateEstonia #EstonianEducation #EstonianScientificCommunity #EstoniaGlobalResearch #EstoniaKnowledgeEconomy #InnovativeResearch #GlobalScienceHub #ResearchAndDevelopment #InnovationLeadership #ScienceImpact #PioneeringResearch #KnowledgeEconomy

Simplify Genomics, Emerges from Development Mode by leveraging the infrastructure developed at Genomic Sequencing Pioneer Human Longevity with the launch of a Searchable Genome, Interpretation, and Reporting Platform Called Smart Genome™. Read More Here in GEN Genetic Engineering and Biotechnology News https://lnkd.in/g-Y5HV4U

Challenges and perspectives in computational deconvolution of genomics data #genomics #dataanalysis

The first set of papers from the latest iteration of the Critical Assessment of Genome Interpretation (CAGI) consortium (featuring our own Vikas Pejaver and Timothy Bergquist), including the flagship paper have been published: The Critical Assessment of Genome Interpretation Consortium. CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. Genome Biology 25 (2024). https://lnkd.in/gETuVyUS Stenton, S.L., O’Leary, M.C., Lemire, G. et al. Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Hum Genomics 18, 44 (2024).

If you've ever been curious about the science behind companies like 23andMe and their ability to unveil your genetic predispositions, or if you're intrigued by how researchers establish links between specific gene variants and disease states, the latest Decoding Biology newsletter is a must-read. In this edition, we delve into the world of genomic variant analysis, demystifying the process of identifying genetic variants and exploring their connections to phenotypic traits.

Are you looking for genomic sequencing and analysis for your research projects? With almost two decades of experience, Floragenex is a leading provider of genomic services to academic, government, and commercial institutions worldwide. We specialize in turning DNA into data, enabling researchers to unlock the secrets of genetics. Our comprehensive range of services includes: 🟢 RAD-SEQ: Fractional genome sequencing for population genomics studies 🟢 SBG / ddRAD-SEQ: Genotyping and genetic variant identification 🟢 WGS: Whole genome sequencing for comprehensive genomic resources or low coverage whole genome genotyping 🟢 METHYL-RAD-Seq: Fractional genome sequencing for population-wide genotyping of methylated sites 🟢 RNA-SEQ: Differential gene expression analysis at an individual and group level 🟢 TARGETED SEQUENCING: Multiplexed sequencing of predetermined loci Collaborate with our skilled and friendly experts who go above and beyond to ensure the success of your project. Ready to accelerate your research? Visit www.floragenex.com to learn more. #genomics #dnasequencing #dna

Exciting update - the most diverse genomic data biobank till date! The All of Us Research Program has released genomic data from 245,388 clinical-grade sequences, including over 1 billion genetic variants. This diverse dataset, with 77% from historically under-represented communities, includes over 1 billion genetic variants, 275 million of which were previously unreported. Researchers can access data swiftly through the All of Us Researcher Workbench. This breakthrough paves the way for genomic medicine to benefit all. #precisionmedicine #Genomics #Research #Diversity #AllOfUs 🧬🔬 https://lnkd.in/giK_Pu-B

New paper alert! Our consortium paper for CAGI: The Critical Assessment of Genome Interpretation was just released. Since 2010, CAGI has posed numerous challenges for geneticists and bioinformaticians to predict the effects of specific mutations on various rare diseases. I was one of the participants in the NAGLU challenge, which related to Sanfilippo Syndrome B a.k.a. Mucopolysaccharidosis IIIB, with C. Mitch Nodzak, PhD, Aneeta Uppal, PhD, and Xinghua (Mindy) Shi. Read the consortium paper in Genome Biology here: https://lnkd.in/eDHACHDz #bioinformatics #genomics #genetics #mutations #computationalbiology #machinelearning #ai #datascience #biology #research #rarediseases

The Human Pangenome Reference Consortium has unveiled the first draft, marking a major step forward in our understanding of human genetics by offering a comprehensive view of genetic variation across diverse populations [1]. The pangenome reference enables more precise analysis of clinically relevant human genetic variation, among other benefits. 𝘒𝘦𝘺 𝘩𝘪𝘨𝘩𝘭𝘪𝘨𝘩𝘵𝘴 𝘧𝘳𝘰𝘮 𝘵𝘩𝘦 𝘳𝘦𝘴𝘦𝘢𝘳𝘤𝘩 𝘪𝘯𝘤𝘭𝘶𝘥𝘦: - 47 phased, diploid assemblies from a genetically diverse cohort - Coverage of over 99% of expected genomic sequences with over 99% accuracy - Identification of new alleles at complex genetic loci - Incorporation of 119 million base pairs of polymorphic sequences and detection of 1,115 gene duplications - Improvement in small variant discovery accuracy by 34% compared to existing workflows - Increase in detection of structural variants per haplotype by 104% The authors also demonstrated significant improvements in short variant discovery, SV genotyping, tandem repeat representation, RNA sequence mapping, and chromatin immunoprecipitation and sequencing analysis using the pangenome. The sequencing data, assemblies, and pangenomes generated by the project are available at major genome resources, and the data is also accessible through the AWS Open Data Program: NCBI: https://hubs.ly/Q02kZ47m0 ENSEMBL: https://hubs.ly/Q02kZfJz0 UCSC Genome Browser: https://hubs.ly/Q02kZ9Z20 AWS Open Data Program: https://hubs.ly/Q02kZc1g0 Human-pangenomics S3 bucket: https://hubs.ly/Q02kZbp70 [1] https://hubs.ly/Q02kZ7tT0 #Solvuu #Genomics #Pangenome #HumanGenetics #Research #Science #Innovation #Bioinformatics #VariantCalling

"Connected annotations" are revolutionizing the field of genomics research by enabling scientists to make more meaningful connections between vast datasets. By linking together genetic variations, gene function, and disease phenotypes, researchers can gain a deeper understanding of the complex interplay between genes and health. This approach has the potential to accelerate breakthroughs in personalized medicine and drug discovery. Looking forward to the see the power of the beast DRAGEN #Illumina #healthcare #lifesciences #ngs #bioinformatics #computationalbiology https://lnkd.in/dgJ3_8w9