Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants

Background Genomics diagnostic tests are done for a wide spectrum of complex genetics conditions such as autism and cancer. The growth of technology has not only aided in successfully decoding the genetic variants that causes or trigger these disorders. However, interpretation of these variants is n...

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Bibliographic Details
Main Authors: Satishkumar Ranganathan Ganakammal, Emil Alexov
Format: Article
Language:English
Published: PeerJ Inc. 2019-11-01
Series:PeerJ
Subjects:
Online Access:https://peerj.com/articles/8106.pdf