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BioTech 79 | Variant Analysis | 4-Day Hands-On Workshop

February 27, 2018 to March 2, 2018

Registration occurs on a first-come, first-served basis. The deadline for registration is one week before the first day of the course.  If you are unable to register before the deadline, please email: training@faes.org or call 301-496-7975 for space availability. 
NIH employees paying with the signed vendor copy of the SF-182 form, please email:  registration@faes.org

Register Now

Background
Next generation sequencing technologies have made genotyping a day to day research and diagnostic tool. Genotyping has come all the way from bench-to-bedside. Genetic variants are being used in personalized medicine to identify susceptibility genes, common disease variants and mutations relevant for diagnosis and therapy.

Objectives
Participants will use popular open source tools and techniques necessary for analysing variants starting from raw data quality control. Apart from the regular analysis like alignment, variant calling and annotation, this training will walk through participants in several advanced variant analysis methods and techniques.

Who should attend:
Researchers and academics interested in learning the tools and methods to identify and study variants using techniques like DNA-Seq and other methods

Clinicians, researchers and academics interested in understanding/predicting the effect of mutations on the structure and function of a biological molecule for diagnostic and treatment potentials

Program administrators who are interested in getting a firsthand experience working with tools and techniques to understand variant analysis

Skill sets taught:
NGS Basics, experimental design, data format

Data quality control, preprocessing and alignment

Germline variant calling

Somatic variant calling

Variant score recalibration and filtering

Variant calling best practices

Indels, structural and copy-number variation

Cohort and population scale analysis

Recombination, linkage, LOH, haplotype, allelic imbalance

 Variant annotation and association analysis

Co-variation, causal variation, network analysis

Highlights:
Cloud-based Linux desktop

Cloud image freely provided to participants

Training provided by active NIH researchers

Cookbook style bound manual for all exercises

Direct, after training support through exclusive forum membership

Continuing Educational Credits
 

Workshops generally run from 9:00am - 5:00pm.​

Course Agenda:
Day 1

9 AM to 12 PM : Cloud computing setup & Linux basics

1 PM to 2.30 PM : Overview of Concepts in Variant Analysis (Presentation)

2.30 PM to 5 PM : Calling variants using GATK (Hands-on exercise)

Day 2

9 AM to 10 AM : Beyond SNPs: indels, copy number variants, and structural variants (Presentation)

10 AM to 12 PM : Working with indels (Hands-on exercise)

1 PM to 5 PM : Calling structural and copy-number variants (Hands-on exercise)

Day 3

9 AM to 10 AM : Identifying haplotypes and rare variants (Presentation)

10 AM to 12 PM : Identifying haplotypes, LOH, and de-novo variants in parent-offspring trios       (Hands-on)

1 PM to 2.30 PM : Phasing and imputation (Hands-on)

2.30 to 5 PM : Identifying rare variants          (Hands-on)

Day 4

9 AM to 10 AM : Variant annotation and association studies (Lecture)

10 AM to 12 PM : Single-locus association using Plink

1 to 4.45 PM : Network based variant analysis          

Note: Students will need to bring their own laptop to this program

Related BioTech Courses

BioTech 56: RNA-Sequencing
 

General Training Rate
$1,195.00

Discounted Training Rates                                                                             
 $695.00 - NIH Trainees (fellows, postdocs, postbacs - NIH ONLY)                      $895.00 - NIH Community                                                                               
 $995.00 - Academia, Government, Military 

Comprehensive Binder
Contains all notes, protocols, and reference material needed. No additional books are required. 

Credit
Although no grades are given for courses, each participant will receive Continuing Education Units (CEUs) based on the number of contact hours.   One CEU is equal to ten contact hours.   Upon completion of this course each participant will receive a certificate, showing completion of the workshop and 2.8 CEUs.

Refund Policy                                                                                                             
100% tuition refund or 100% full workshop credit is available for registrations cancelled 14 or more days prior to the start of the workshop. 

50% tuition refund or 100% full workshop credit is available for registrations cancelled between 4 to 13 days prior to the start of the workshop. 

0% refund, 100% full workshop credit is available for registrations cancelled 
3 days or less prior to the start of the workshop.  

Notification
All cancellations must be received in writing via email to Ms. Carline Coote at ccoote@mail.nih.gov

Cancellations received after hours are time marked for the following day.  

In regards to a full or partial refund or a full workshop credit, you must indicate which option you are selecting at the time of your written cancellation. 

All refund payments will be processed by the start of the initial workshop.

Suggested Accommodation
A special rate is available to all BioTech Workshop attendees. This includes complimentary continental breakfast, guest room Wi-Fi and discounted $15 parking per night. Hotel is within walking distance of the training facility   Reservations can be made online, see below. 

DoubleTree by Hilton Bethesda - Washington DC

 

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