Welcome to the Runs of Homozygosity Analysis Tutorial!ΒΆ


Updated: March 22nd, 2017

Level: Intermediate

Version: 8.7.0 or higher

Product: SVS

Dr. Todd Lencz, Associate Director of Research at The Zucker Hillside Hospital, working in collaboration with Dr. Christophe Lambert of Golden Helix, has developed a novel analytic approach that first identifies patterned clusters of SNPs demonstrating extended homozygosity (runs of homozygosity or “ROHs”) and then employs both genome-wide and regionally-specific statistical tests for association to disease. This approach can identify chromosomal segments that may harbor rare, penetrant recessive loci.

Using a simulated dataset, this tutorial will lead you step-by-step through the workflow for finding runs of homozygosity outlined in Dr. Lencz’s paper.


This tutorial will not cover the data importing and quality control procedures Dr. Lencz employed in his study, most of which can be done with SNP & Variation Suite 8. To learn more about these procedures, please refer to the manual.


To complete this tutorial you will need the following:



We hope you enjoy the experience and look forward to your feedback.