PATH-SCAN: A Reporting Tool for Identifying Clinically Actionable Variants

Abstract

The American College of Medical Genetics and Genomics (ACMG) recently released guidelines regarding the reporting of incidental findings in sequencing data. Given the availability of Direct to Consumer (DTC) genetic testing and the falling cost of whole exome and genome sequencing, individuals will increasingly have the opportunity to analyze their own… (More)

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@article{Daneshjou2014PATHSCANAR, title={PATH-SCAN: A Reporting Tool for Identifying Clinically Actionable Variants}, author={Roxana Daneshjou and Zachary Zappala and Kimberly R. Kukurba and Sean M. Boyle and Kelly E. Ormond and Teri E. Klein and Michael Snyder and Carlos D. Bustamante and Russ B. Altman and Stephen B. Montgomery}, journal={Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing}, year={2014}, pages={229-40} }