Next Generation Sequencing… more than just a sequel

Slides:

Advertisements

Similar presentations

Next-Generation Sequencing: Methodology and Application

Advertisements

+ Family Pact Program California State University of Fresno University Health and Psychological Services.

ACMG Recommendation: All laboratories conducting clinical sequencing should seek and report expected pathogenic mutations for a short list of carefully.

Human Genetics Overview.

Health Insurance: The Basics. 10 things you should know about Health Insurance 1.Insurance costs a lot but having none costs more 2.If your employer offers.

Created by: Evelin Fuentes Rai Boone.  Genetic engineering : the deliberate manipulation of genetic material.  Genetic code : The sequence of nucleotides.

Myths and Facts About Cancer Clinical Trials. Copyright ENACCT, 2007 It’s a treatment of “last resort!” They treat you like a “guinea pig ” No one benefits.

Health Insurance: The Basics Independent Living. 5 Things You Should Know About Health Insurance… Insurance costs a lot but having none costs more If.

Dr Katie Snape Specialist Registrar in Genetics St Georges Hospital

What is personal genetics? What might it mean for me, my family and society? What is personal genetics? What might it mean for me, my family and society?

Image: Genetics & Ethics Just because we can, does it mean we should? Image:

Updated 7/2015 AGENDA Susan G. Komen ® Introduction Local Organization/Komen Affiliate information Breast cancer information –Breast cancer statistics.

Genetic predisposition to

Critical Care Department St. Michael’s Hospital Research Program © 2003 Critical Care Dept, St. Michael’s Hospital.

DNA Sequencing A population of DNA fragments is generated. –One end is common to all fragments (the 5’ end of the sequencing primer). –The other end terminates.

Sources of Bacterial Species with Antibiotic Activity: Soil & Rotten Wood.

Why do people move? On a piece of paper, write down all the reasons people move.

Challenges in interpreting and counseling of Next Generation Sequencing (NGS) results Sara Taghizadeh PhD student of medical genetic in Genetics Research.

Return of research results and incidental findings How, from whom, to whom, and when research results (both general and individual) should be communicated.

“I Can” Study Guide Unit 1-3

Hereditary Cancer Predisposition: Updates in Genetic Testing

Pathways involved in hereditary breast cancer

Interpreting exomes and genomes: a beginner’s guide

Research Techniques Made Simple: Next-Generation Sequencing:

6.3 – Manipulating genomes

Genetic testing for the epilepsy specialist- focal or generalised?

Sequencing Introduction

GENETIC TECHNOLOGY Genetically engineered bollworm.

THE ROLE OF NEXT GENERATION SEQUENCING IN CLINICAL PRACTICE

Interpretation Next Generation Sequencing (Bench Clinic)

What is personal genetics?

MAGIC Macarthur Access Group for Inclusive Communities

High-Throughput Gene Expression and Mutation Profiling: Current Methods and Future Perspectives Breast Care 2013;8: DOI: / Fig.

Click to watch the 25 Genomes introductory video

Making Sense of Uncertainty

Precision Cardiovascular Medicine: State of Genetic Testing

WHY GENETIC COUNSELING IS IMPORTANT

The Use of Molecular Epidemiology and

Content and Labeling of Tests Marketed as Clinical “Whole-Exome Sequencing” Perspectives from a cancer genetics clinician and clinical lab director Allen.

Agenda 4/10 Biotech Intro Uses for Bacteria and Viruses

The Role of MRD in Hematologic Malignancies

The Role of MRD in Hematologic Malignancies

Optimizing HIV Care By Guiding and Educating the Workforce

Basics Semiconductors

Newborn screening and the future – Where do we go from here?

Genetics and Breast Cancer Adelphi 2018 Educational Forum Sharona Cohen, MS, CGC Certified Genetic Counselor Northwell Health.

Figure 1 The genomic nephrology workflow: genetic diagnosis and clinical application Figure 1 |The genomic nephrology workflow: genetic diagnosis and clinical.

Genomic Medicine Centre Overview

The Future of Personalized and Precision Perinatal Medicine

DNA Sequencing A population of DNA fragments is generated.

DNA Sequencing A population of DNA fragments is generated.

DNA Sequencing A population of DNA fragments is generated.

Key Question WHY USE A NON-TRADITIONAL RCT DESIGN?

Genomic Medicine Centre Overview

The Research Question How and why do primary care physicians (PCPs) use medications including antipsychotics, as well as non-pharmacologic strategies,

Precision Cardiovascular Medicine: State of Genetic Testing

Light Account Next steps

Figure Revised Niemann-Pick disease type C (NP-C) diagnostic algorithm for the use of biomarkers and genetic testing Revised Niemann-Pick disease type.

Why are they significant?

Coverage and Reimbursement to Genetic Testing

Agenda 4/8 Biotech Intro Uses for Bacteria and Viruses

Genomic Medicine Centre Overview

2016 Healthy Heart Program Nutrition Care, Lyster Army Health Clinic

DNA Sequencing.

Health Insurance: The Basics

The Research Question How and why do primary care physicians (PCPs) use medications including antipsychotics, as well as non-pharmacologic strategies,

Revision Matters of Life and Death Assessment

Genome Editing Should we have the option to change DNA in babies?

Next Generation Sequencing Market. Report Description and Highlights According to Renub Research market research report “Next Generation Sequencing (NGS)

Presentation transcript:

Next Generation Sequencing… more than just a sequel “Sanger” “Next Gen” “Deep Space 9”

Sanger Gel

Sanger Capillary

DNA Sequencing Methods in NGS Pyrosequecning Sequencing by synthesis Sequencing by ligation Ion semiconductor sequencing

Pyrophosphate + Chemical Light

WES vs. WGS

Clinical vs. Research Exomes

So…you can afford exomes… now what do you do with it?

Does the Change Matter?

The Range of Options Pathogenic Likely Pathogenic Uncertain Significance Likely Benign Benign Want to give it a try? Find a mentor and use the guide on LearnRD to at least get you started

Incidental Findings

Why Use it At All? Families willing to accept risk for benefit Unless we use it, it won’t improve Becoming “standard of care” for some situations Research exomes identify new diseases and new gene associations new treatments

Annimations from Companies (we do not support or endorse, but like free educational videos!! http://www.bing.com/videos/search?q=illumina+video&&view=detail&mid=C48CB89CC901687C8705C48CB89CC901687C8705&FORM=VRDGAR http://www.bing.com/videos/search?q=illumina+video&&view=detail&mid=6B29333E6D4EF34426416B29333E6D4EF3442641&rvsmid=C48CB89CC901687C8705C48CB89CC901687C8705&fsscr=0&FORM=VDFSRV