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BIOF 079 (Formerly BioTech 79) | Variant Analysis: Hands-on Training

January 28, 2020 to January 31, 2020

NIH Campus- Bethesda, Maryland

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: or call 301-496-7975 for space availability. 

NIH Fellows or NIH community members being sponsored by their lab can enroll tentatively, using the Contract: SF-182 option on the workshop’s registration site while waiting for authorization of payment. Enrollment is not guaranteed until payment is received.

Register Now

Contract: SF-182

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.

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

  1. NGS Basics, experimental design, data format
  2. Data quality control, preprocessing and alignment
  3. Germline variant calling
  4. Somatic variant calling
  5. Variant score recalibration and filtering
  6. Variant calling best practices
  7. Indels, structural and copy-number variation
  8. Cohort and population scale analysis
  9. Recombination, linkage, LOH, haplotype, allelic imbalance
  10. Variant annotation and association analysis
  11. Co-variation, causal variation, network analysis


  • Cloud-based Linux desktop
  • Training provided by active NIH researchers
  • Cookbook style bound manual for all exercises
  • Continuing Education Credits

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

Students will need to bring their own laptop to this program

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.

General Training Rate
Discounted Training Rates
$695.00 - NIH Trainees (Fellows, PostDocs, PostBacs working at the NIH Campus)    
$895.00 - NIH Community (Working, Appointed, or Assigned to the NIH Campus)
$999.00 - Academia, US Government, US Military

Refund Policy
100% tuition refund for registrations cancelled 14 or more calendar days prior to the start of the workshop.
50% tuition refund for registrations cancelled between 4 to 13 calendar days prior to the start of the workshop.
No refund will be issued for registrations cancelled 3 calendar days or less prior to the start of the workshop.

All cancellations must be received in writing via email to Ms. Carline Coote at
Cancellations received after 4:00 pm (ET) on business days or received on non-business days are time marked for the following business day. 
All refund payments will be processed by the start of the initial workshop.

Suggested Lodging Accommodations
A special rate is available to all workshop attendees. This includes complimentary buffet breakfast, guest room Wi-Fi, and discounted $15 parking per night. The hotel provides complimentary shuttle service to/from the NIH campus. The hotel is also within walking distance of the training facility. Reservations can be made online, see below.  

The Bethesdan by Hilton



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