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Exome Sequencing Analysis Class at the NIH Library


The NIH Library’s Bioinformatics Support Program will host a whole-exome sequencing data analysis and variant calling class on Thursday October 20 from 9:30 a.m. to 4:00 p.m.

The class will begin with an introduction to the Linux operating system as a basis for running analysis programs such as FASTQC, GATK, Bedtools, Picard, Variant Effect Predictor (VEP), and workflows from the Linux command line. The training will then review what the possible follow-up analyses are and the scientific questions that can be answered by each of them. Participants will learn how to:

  • Navigate Linux and run Linux programs

  • Run quality control checks on whole-exome sequencing data

  • Map raw reads to a reference genome

  • Generate alignment statistics and check mapping quality

  • Identify variants in the sequence data

  • Annotate and filter variants

  • Visualize variants

  • Explore downstream analysis and the questions it can answer

During the class, the hands-on exercise will be run on a NIAID LOCUS cluster. However, participants will be able to run all programs and workflows on Biowulf. No previous knowledge of the Linux command line is necessary for this class. Students will receive handouts and electronic copies of scripts and lessons. The class will be taught by NIAID and NCI staff and is open to NIH and HHS staff. ​

Registration for this class is no longer available.

Sign language interpreters and other reasonable accommodations can be provided. If you require such accommodations, please contact the NIH Library Information Desk at 301.496.1080 five business days in advance. For TDD users/callers, please call the above number through the Federal Relay Service at 1.800.877.8339.

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