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MAPPIN: Method for Annotating, Predicting Pathogenicity, and mode of Inheritance for Nonsynonymous variants

posted on 24.10.2017 by Nehal Gosalia
This directory includes software, readme files for installation and usage, associated data files for running MAPPIN, and prediction scores for all nsSNVs. The annotate.mappin.tar.gz tarball includes all the scripts and associated data files needed to annotate missense variants. The predict.mappin.tar.gz includes all the scripts and data files need to run predictions on the annotated missense variants file. The mappin_training_data_cross-validation tarball has the training datasets and other files, which can be run for training and cross-validation using the associated R script. The hg19.mappin.prediction.scores.tar.gz file has MAPPIN prediction scores (dominant, recessive, benign) for all possible nsSNVs in the genome. The hg38.mappin.prediction.scores.tar.gz file has MAPPIN prediction scores lifted over to hg38.

Release update 10/24/17: minor bug fixed; users only need to re-download predict_mappin.tar.gz.

Note: Although the license states CC BY, MAPPIN software can be used and modified freely for non-commercial purposes only. This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc/4.0/ or send a letter to Creative Commons, PO Box 1866, Mountain View, CA 94042, USA.