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所在平台: Udemy |
课程主页: https://www.udemy.com/course/geneyx-courses-clinical-variant-interpretation-analysis/
课程评论：没有评论
课程名称：Geneyx Courses：临床变异解释分析 概述：本课程重点介绍在临床实践中进行基因组分析和解释所需的科学原理和工具，并强调接触真实案例的重要性。我们旨在为您提供在快速变化的基因组和个性化医学领域中所需的导航技能。课程由经验丰富的高级变异科学家Hagar Mor Shaked博士和Ali Tabish博士主讲。每位参与者都将获得Geneyx分析平台的培训访问权限。完成课程后，参与者将获得课程认证。Geneyx自豪地与PacBio和ONT合作，我们鼓励您联系他们的销售团队进行进一步咨询。 课程内容包括： 1. NGS和生物信息学管道简介 2. 变异解释、工具和数据库（如ClinVar、gnomAD、Decipher等）简介 3. 临床病例的变异解释 4. 单核苷酸变异解释的ACMG/AMP指南，ClinGen指南 - 第一部分 5. 单核苷酸变异解释的ACMG/AMP指南，ClinGen指南 - 第二部分 6. 结构变异、拷贝数变异及其工具和数据库（如DGV、gnomAD-SV等） 7. 拷贝数变异解释的ACMG/AMP指南 8. 一起解决病例，第一部分（外显子组和基因组） 9. 一起解决病例，第二部分（长读取测序）。临床基因组学的未来方向及课程总结 学习内容包括： - 变异解释的工具 - 单核苷酸变异（SNV）和拷贝数变异（CNV）分析 - ACMG指南和SNV及CNV的解释 - 案例研究 - 变异的蛋白质视角 - 外显子测序分析 - 全基因组测序分析 此课程适合对基因组学和临床变异解释感兴趣的专业人士，帮助您掌握关键技能，提高在临床环境中分析和解释基因变异的能力。
This course with ACCESS TO REAL CASES emphasizes the scientific principles and tools essential for genomic analysis and interpretation within the context of clinical practice. We aim to provide you with the necessary skills for navigating the rapidly changing landscape of genomic & personalized medicine. I would like to introduce your senior variant scientists, who are experts in their respective fields: Hagar Mor Shaked, PhD, and Ali Tabish, PhD. Each participant will have access to the Geneyx Analysis platform for training purposes. Upon completion, participants will be awarded a certification for the course.Geneyx proudly partners with both PacBio and ONT. We encourage you to contact their sales teams for further inquiries.Topics:1. Introduction to NGS, Bioinformatic pipelines2. Introduction to Variant interpretation, tools, and databases (ClinVar, gnomAD, Decipher, etc.)3. Variant interpretation, cases from the clinic4. ACMG/AMP guideline for single nucleotide variant interpretation, ClinGen guidelines - part I5. ACMG/AMP guideline for single nucleotide variant interpretation, ClinGen guidelines - part II6. Structural variants, copy number variants, tools, and databases (DGV, gnomAD-SV, etc.)7. ACMG/AMP guideline for copy number variant interpretation8. Solving cases together, part I (exomes and genomes)9. Solving cases together, part II (Long reads sequencing). Future directions in clinical genomics and course summaryHere is what you will learn:Tools for Variant InterpretationSingle nucleotide variant (SNV) and copy number variant analysis (CNV)The ACMG guidelines and interpretation for SNV and CNVCase studiesA protein view of variantsExome sequencing analysisWhole genome sequencing analysis
