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BIOF 079 | Variant Analysis: Hands-on Training

June 2, 2020 to June 5, 2020



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 and awaiting payment authorization can tentatively hold a seat using the “Reserve A Seat” option. FAES must receive payment within 7 business days after reserving a seat or 3 business days before the start of the workshop, which ever comes first. If payment is not received in this time frame, your reservation will be canceled.

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.

Simultaneous access to two screens is highly recommended for adequate learning experience. Examples include two laptops, one computer with two screens, one laptop and one tablet, etc.

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.​

Comprehensive file
A PDF file containing all notes, protocols, and reference material will be provided. No additional books are required. 

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.

FAES reserves the right to cancel any course up to 3 business days prior to the course start date. Notifications will be emailed immediately upon cancellation and a tuition refund will be issued. Every effort will be made to retain posted courses. We encourage the purchase of refundable travel reservations should a course be cancelled for any reason.

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