Genomenon
Genomenon
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2024 Mastermind Genomic Intelligence Platform User Group Meeting
At our latest Mastermind User Group virtual meeting we welcomed Mastermind users to come together to share insights, collaborate and connect with other Mastermind users in our community.
Event highlights:
• Engaging sessions - from our inspiring keynote to informative breakout training sessions we have a series of discussions designed to ignite conversation and expand your knowledge and mastery of the platform.
• Connecting with peers - Connect with peers online to hear how they use Mastermind.
• Influencing the future - whether you are a seasoned veteran or a first-time user, your voice matters. This is your chance to impact how the product is shaped.
Agenda:
• Keynote Presentation - We kicked off the Mastermind user group meeting with an exciting Keynote presentation. We were honored to have as our speaker, Dr. William Lowery, CEO of Limb and Girdle Muscular Dystrophy Foundation and Registry. Dr. Lowery will share with us his journey in working with patients with LGMD disorders and the impact of data-driven insights in the practice of clinical medicine.
• Variant curation - Join us for a breakout session led by the brilliant minds of our curation team! Our experts will guide you through leveraging Mastermind to unlock invaluable insights into variant curation. Discover how Mastermind offers curated details at the variant level, complete with reference citations, empowering you to efficiently review evidence and streamline your workflows.
• Gene curation - in this session, our subject matter experts will take you on a guided tour through the incredible capabilities of Mastermind. Discover how Mastermind delivers curated details at the gene level, following our proprietary SOP based on ClinGen Gene Curation guidelines. With over 9000 curated gene disease relationships in over 6500 genes, Mastermind provides researchers with essential data and insights on diseases, inheritance patterns and more.
• Mastermind Workshop - Welcome to our Mastermind product training breakout session! Whether you are a seasoned Mastermind user or just starting out, this workshop is designed to equip you with valuable insights and techniques maximizing your efficiency and effectiveness on Mastermind.
• Wrap up - Join Mark Kiel, CSO & VP, Product Strategy and Brittnee Jones, VP, Product Strategy & Product Management as they share with you Genomenon’s vision and strategy from our Mastermind & curation services to our exciting acquisition of CKB!
Do you have feedback you'd like to share with our team? Contact us: support@genomenon.com
Create your own free Mastermind account today: mastermind.genomenon.com/users/sign_up/?ref=youtube
Переглядів: 133

Відео

The Race to Curate The Human Genome Genomenon - June 2024 Update
Переглядів 45Місяць тому
The Race to Curate The Human Genome Genomenon - June 2024 Update
Launching a Search: Mastermind Genomic Intelligence Platform powered by Genomenon
Переглядів 1093 місяці тому
Learn about all the ways to craft and perform a search in Mastermind! This video shows the different types of genomic concepts that are searchable within the application and the variety of nomenclatures that are recognized for each of those concepts. Try Mastermind for yourself by creating your account: bit.ly/3sF4PQB Start with a free trial of Professional Edition! No payment info required.
Getting Started: Mastermind Genomic Intelligence Platform powered by Genomenon
Переглядів 1013 місяці тому
This video tutorial will walk through the process of setting up your Mastermind Genomic Intelligence platform account. Using AI and genomic expertise to accelerate patient diagnosis, Mastermind, powered by Genomenon, is the world's most comprehensive genomic search engine, used by thousands of researches across the world. Visit our video tutorials page for more search examples: www.genomenon.co...
Mastermind Genomic Intelligence Platform: Evidence Page Overview
Переглядів 773 місяці тому
Learn about Mastermind's NEW evidence page where you can view Genomenon's curated evidence for variants, and explore all the literature related to your variant. Dive into Mastermind's plethora of features that will help you nail down the evidence you need to interpet your genes and variants. Try Mastermind for yourself by creating your account: bit.ly/3sF4PQB Start with a free trial of Professi...
Mastermind Genomic Intelligence Platform: Gene Page Overview
Переглядів 693 місяці тому
Learn about all the features of Masterminds Gene page. Users can view our Gene-Disease Relationships, and the evidence used used by our curation team. Additionally, users can find gene level information needed for curation, and explore our variant diagrams and variant table to find everything you need to interpret yourgenes and variants. Try Mastermind for yourself by creating your account: bit...
Comprehensive Identification of Gene Disease Relationships Across the Germline Clinical Exome
Переглядів 2184 місяці тому
In the scientific platform presentation at the 2024 ACMG Annual Clinical Genetics Meeting. Genomenon Founder and Chief Scientific Officer presented: Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation About this talk: Sequencing of large gene panels, exomes and genomes in clinical diagnostic...
The Fully Curate Human Genome | Genomenon at ACMG 2024
Переглядів 1744 місяці тому
Diagnosing rare genetic diseases using gene panels, clinical exomes, and whole genome sequencing requires rigorous methods of data analysis and interpretation in molecular diagnostics labs. Curating the entire human genome at the gene and variant level will have a significant impact on our understanding of human genetics and how to apply these insights for clinical care. In particular, systemat...
Genomenon Taking Leaps in the Race to Curate the Genome with CEO Mike Klein
Переглядів 765 місяців тому
In this talk at the 2023 Mastermind User Group in Washington, D.C., Genomenon CEO, Mike Klein, introduces our company mission and our aim to be the first to curate the entire human genome. Our team is dedicated to improving the quality of patients’ lives by uncovering the genomic drivers of genetic disease and cancer. Through blending the power of AI with the precision of genomic expertise, Gen...
Challenges in the Analysis of WGS Datasets for the Diagnosis of Rare Diseases in Pediatric Patients
Переглядів 1285 місяців тому
In this presentation at the 2023 Mastermind User Group in Washington, D.C., Director of Molecular Diagnostics at Ann and Robert H. Lurie Children’s Hospital of Chicago, Kai Lee Yap, PhD, FACMG, discusses the challenges in the analysis of whole-genome sequencing (WGS) datasets for the diagnosis of rare diseases in pediatric patients. Whole-genome sequencing is a powerful tool for diagnosing rare...
Mastermind 3.0: Finding a Comprehensive Catalog of Gene Disease Relationships with Britt Jones, PhD
Переглядів 535 місяців тому
In this talk at the Mastermind User Group in Washington, D.C., Genomenon’s VP of Product Management and Customer Success, Brittnee Jones, PhD, discusses Genomenon's aim to take a big leap forward in the race to curate the human genome with the launch of Mastermind 3.0. Genomenon is the first to curate the clinical exome at the gene level, providing a comprehensive catalog of gene-disease relati...
Understanding Gene-Disease Relationships: a Novel and Actionable Approach - Genomenon
Переглядів 1765 місяців тому
Increasing use of large gene panels, clinical exomes, and full genomes for diagnosis of rare genetic diseases has created a strain on molecular diagnostics labs to analyze and interpret these data. Outside of the large volume of data produced as a result of using these assays, there is a need to appreciate a wider array of gene-disease relationships (GDRs) to accommodate a more diverse set of d...
Professional Edition Features: Mastermind Genomic Intelligence Platform
Переглядів 1286 місяців тому
Watch this helpful tutorial about the features available to Mastermind Professional Edition users. For more information on the Gene Information page, watch this quick video to see the functionality and updated interface: ua-cam.com/video/QC_qKTt5QAY/v-deo.html Try Mastermind for yourself by creating your account: bit.ly/3sF4PQB. Start with a free trial of Professional Edition. No payment info r...
Mastermind Masterclass: New Gene Information Page
Переглядів 3228 місяців тому
03:39 Introduction to Mastermind 3.0: Dan O'Hara, Product Manager, Mastermind 08:00 Key Concepts of the new Gene Information Page 10:09 Live demonstration of Mastermind 3.0: Denice Belandres, Field Application Scientist, Genomenon 11:23 • Classified Variants by Type - Genomenon and ClinVar 13:30 • Gene Summary Information 14:47 • Intrinsic Metrics for Application of ACMG Gene Wide Criteria 15:4...
Genomenon Rare Perspectives Roundtable - It Takes a Village: Developing Treatments for Rare Disease
Переглядів 719 місяців тому
In this Rare Perspectives roundtable discussion, our panelists will discuss the unique challenges that orphan drug developers face as they assess market potential and grapple with characterizing broad spectrums of disease, identifying targets and biomarkers, and raising disease awareness in the patient and clinical communities. You’ll gain rare insights into: • How rare disease companies decide...
Interpreting Splice Variants: Contemporary Classification Tools and Methods
Переглядів 1,6 тис.10 місяців тому
Interpreting Splice Variants: Contemporary Classification Tools and Methods
Prognosis and Potential: How POLE and PIK3R1 Are Changing How We Approach Endometrial Cancer
Переглядів 21 тис.Рік тому
Prognosis and Potential: How POLE and PIK3R1 Are Changing How We Approach Endometrial Cancer
Mastermind Genomic Search Engine | Enhanced Search Tag Editing
Переглядів 298Рік тому
Mastermind Genomic Search Engine | Enhanced Search Tag Editing
Mastermind Genomic Search Engine: Enhanced Search - Multi Entity Search Parsing
Переглядів 187Рік тому
Mastermind Genomic Search Engine: Enhanced Search - Multi Entity Search Parsing
Ask the Masterminds: User Group Q&A
Переглядів 310Рік тому
Ask the Masterminds: User Group Q&A
Mastermind Genomic Search Engine - Searching for Intronic Variants
Переглядів 299Рік тому
Mastermind Genomic Search Engine - Searching for Intronic Variants
Mastermind Update: Finding Your Supplemental Match
Переглядів 323Рік тому
Mastermind Update: Finding Your Supplemental Match
Launching a Search: Mastermind Genomic Search Engine
Переглядів 450Рік тому
Launching a Search: Mastermind Genomic Search Engine
Mastermind Genomic Search Engine - CNVs: Karyotype Nomenclature and Filtering Exact Matches
Переглядів 215Рік тому
Mastermind Genomic Search Engine - CNVs: Karyotype Nomenclature and Filtering Exact Matches
Mastermind Genomic Search Engine - CNVs: Cytobands and Exploring the CNV Diagram
Переглядів 222Рік тому
Mastermind Genomic Search Engine - CNVs: Cytobands and Exploring the CNV Diagram
Mastermind Genomic Search Engine - CNVs: Intragenic CNVs and Boolean Searches for Gains/Losses
Переглядів 156Рік тому
Mastermind Genomic Search Engine - CNVs: Intragenic CNVs and Boolean Searches for Gains/Losses
Mastermind Genomic Search Engine - CNVs: Genomic Coordinates and Phenotypes
Переглядів 237Рік тому
Mastermind Genomic Search Engine - CNVs: Genomic Coordinates and Phenotypes
Mastermind Genomic Search Engine - CNVs: Array Nomenclature and Sorting
Переглядів 90Рік тому
Mastermind Genomic Search Engine - CNVs: Array Nomenclature and Sorting
PI3R1 Mutations in Endometrial Cancer | Natalie Peer, PhD | Mastermind User Group 2023
Переглядів 111Рік тому
PI3R1 Mutations in Endometrial Cancer | Natalie Peer, PhD | Mastermind User Group 2023
Classification Tools for Splicing Variants | Randi Rawson, PhD | Myriad Genetics
Переглядів 121Рік тому
Classification Tools for Splicing Variants | Randi Rawson, PhD | Myriad Genetics

КОМЕНТАРІ

  • @BUY_YOUTUB_VIEWS_286
    @BUY_YOUTUB_VIEWS_286 20 днів тому

    The visuals just made the song even harder!!

  • @NehaKumari-uz2hu
    @NehaKumari-uz2hu 5 місяців тому

    Can you explain compound heterozygous polymorphism?

    • @Genomenon
      @Genomenon 5 місяців тому

      Hi there and thank you for the question! Please send us an email at support@genomenon.com and one of our specialists will quickly reply. Thank you!