Article

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

2021-04-13

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> In Mendelian disease diagnosis, variant analysis is a repetitive, error-prone, and time-consuming process. To address this, we have developed the Mendelian Analysis Toolkit (MATK), a configurable automated variant ranking program. <h4>Methods</h4> MATK aggregates variant information from multiple annotation sources and uses expert-designed rules with parameterized weights to prod...

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Literature Corpus work: d89d87f2-55d4-53bd-bcde-307f47df1891
DOI: 10.1101/2021.04.09.21255188

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