Rising Above Uncertainty; Increasing Clinical Yield in Array-Based Cytogenetics

Download this blog post as a PDF. As Andy Ferrin and I drove the five hour car ride home from a cytogenetics conference, we had a lot of time to reflect on the persistent themes we heard in presentations and dialog among conference attendees. Taking somewhat of an outsider view, we traced each complaint, each sigh of frustration, and the… Read more »

Enhanced ROH Analysis Improves Effectiveness to Identify Rare, Penetrant Recessive Loci

In the paper Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia Dr. Todd Lencz introduced a new way of doing association testing using SNP microarray platforms. The method, which he termed whole genome homozygosity association, 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… Read more »