Jeremy M. Harris
YOU?
Author Swipe
View article: VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms
VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms Open
Motivation In genomic medicine for rare disease patients, the primary goal is to identify one or more variants that cause their disease. Typically, this is done through filtering and then prioritization of variants for manual curation. How…
View article: Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic Open
A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we ob…