[HTML][HTML] The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit …
E Zampaglione, M Maher, EM Place, NE Wagner… - Genetics in …, 2022 - Elsevier
Abstract Purpose 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. Methods MATK
aggregates variant information from multiple annotation sources and uses expert-designed
rules with parameterized weights to produce a ranked list of potentially causal solutions.
MATK performance was measured by a comparison between MATK-aided and human …
prone, and time consuming process. To address this, we have developed the Mendelian
Analysis Toolkit (MATK), a configurable, automated variant ranking program. Methods MATK
aggregates variant information from multiple annotation sources and uses expert-designed
rules with parameterized weights to produce a ranked list of potentially causal solutions.
MATK performance was measured by a comparison between MATK-aided and human …
