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Article

PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2014

Daneshjou Roxana, Zappala Zachary, Kukurba Kim, Boyle Sean M, Ormond Kelly E, Klein Teri E, Snyder Michael, Bustamante Carlos D, Altman Russ B, Montgomery Stephen B

Abstract excerpt

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 genomic data. We have developed a web-based tool, PATH-SCAN,...

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PMID: 24297550
PMCID: PMC4008882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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