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A Practical Guide to Biobanking for Biomarker and Personalized Medicine Research
A Practical Guide to Biobanking for Biomarker and Precision Medicine Tuesday, January 9, 2018 1:00pm – 4:00pm, Simches Research Center, Floor 3, Simches 3.110 Presented by MGH Division of Clinical Research, Harvard Catalyst Clinical and Translational Science Center, and the …
A Practical Introduction to Statistical Genetics- Introduction
Session 1: Introduction Topics: overview of the course Speaker: Tian Ge A Practical Introduction to Statistical Genetics Sponsored by the MGH Division of Clinical Research Brief description: This course provides a comprehensive introduction to modern statistical genetics and covers widely-used …
A Practical Introduction to Statistical Genetics: Heritability and Genetic Correlation Analyses
Topics: definition of broad-sense/narrow-sense heritability; twin and pedigree studies; SNP heritability; linear mixed effects modeling and GCTA; heritability estimation using GWAS summary statistics – LD score regression; liability model and case-control data analysis; variance partitioning; pleiotropy and genetic correlation; bivariate …
A Practical Introduction to Statistical Genetics: Polygenic Risk Scores (PRS)
Topics: polygenic model of complex traits and disease susceptibility; discovery (training), validation and target (testing) samples; calculation of PRS – p-value informed clumping and thresholding; evaluation (performance metrics – variance explained, odds ratio, AUC, precision-recall curve) and interpretation; software and …
A Practical Introduction to Statistical Genetics: Transcriptome and TWAS
Topics: non-coding GWAS SNPs; gene expression regulation; tissue-specific expression quantitative trait loci (eQTLs); The Genotype-Tissue Expression (GTEx) Project (tissue types, sample characteristics, data portal, eQTL networks, gene regulatory networks); multi-tissue transcriptome; public eQTL databases; transcriptome-wide association study (TWAS) Speaker: Max …
A Practical Introduction to Statistical Genetics: Conducting Genomic Research Using Biobanks
Topics: UK Biobank, eMERGE network and Partners HealthCare Biobank, All of Us Research Program, genetic research using electronic health records (EHR) Speaker: Jordan Smoller
A Practical Introduction to Statistical Genetics: Genome-Wide Association Studies (I)
Topics: GWAS history; genotyping technology; linkage disequilibrium, haplotype and tagging genetic variation; study design and statistical power; population stratification; marker quality control (marker call rate, minor allele frequency, Hardy-Weinberg equilibrium, differential missingness between cases and controls, batch effect); sample quality …
A Practical Introduction to Statistical Genetics: Genome-Wide Association Studies (II)
Topics: association analysis (regression, effect size and odds ratio, hypothesis testing, type I and type II errors); visualization and diagnosis (Manhattan plot, LocusZoom, population stratification, spurious association); GWAS summary statistics; meta-analysis; functional annotation and gene-set/pathway analysis; introduction to mixed effects …
A Practical Introduction to Statistical Genetics: Introduction to Sequencing Data Analysis
Topics: next generation sequencing and exome sequencing; common vs. rare variants; alignment and variant calling, filtering and quality control; variant annotation (protein-truncating, damaging missense, benign missense, synonymous); single variant association; gene-based collapsing methods; gene-set burden tests Speaker: Anne Feng
A Practical Introduction to Statistical Genetics: Mendelian Randomization (MR)
Topics: causal effects and graphical representation; instrumental variables; basic ideas, advantages, assumptions and caveats of MR; two-stage least square method for MR; ratio of coefficient method for MR; MR using multiple SNPs; MR using GWAS summary statistics; two-sample MR; detecting …
A Practical Introduction to Statistical Genetics: Statistical Fine-Mapping
Topics: goal of statistical fine-mapping; partitioning and interpreting GWAS lead signals; factors influencing fine-mapping (sample size, number of causal SNPs, effect sizes of causal SNPs, local LD structure, SNP density); statistical methods and software (heuristic methods, penalized regression, Bayesian methods); …
A Primer on Complex Trait Genetics
A Primer on Complex Trait Genetics: Principles for the Beginning Investigator Monday, September 23, 2019, 8:00am – 3:00pm, Simches Room 3.110 This event is sponsored by the MGH Division of Clinical Research. Are you able to keep up with the …
Next Generation Sequencing: An Introduction and Clinical Applications
This course is intended for investigators and research staff at all levels interested in next-generation sequencing resources and applications. It will include an introductory lecture on next-generation sequencing technology and sample preparation, lectures on how to interpret the data and …
Responsible Conduct of ‘Omics’ Research
Responsible Conduct of ‘Omics’ Research Sponsored by the Division of Clinical Research at MGH Join us for this exciting course looking at complex challenges that have become widespread due to rapid advances in genomic technologies, large scale data sharing, and …
The Implementation of Precision Medicine: Integrating Translational Research and Care Redesign
The Implementation of Precision Medicine: Integrating Translational Research and Care Redesign presented by Dr. Calum MacRae, MD, PhD, Chief, Cardiovascular Medicine, Brigham and Women's Hospital, Associate Professor, Harvard Medical School There are a number of practical challenges that must be …
Welcome to the Genetic Code: An Overview of Basic Genetics
This introductory course will review fundamental language and concepts including DNA anatomy and genome organization; genotype-phenotype correlations; basic population genetics; and genotyping. Participants will have the opportunity to submit questions to the faculty prior to the lectures. This course is …