Prediction performance for the PRDIS specific predictors in this work for VS2168 dataset; each corresponds to a different combination of the reference predictors (SIFT, PolyPhen-2, PON-P2, CADD and MutationTaster2). The performance measures are the six standard measures (MCC, accuracy, sensitivity, specificity, PPV and NPV) described in the Materials and Methods section. We also give: the total number and the percentage of cases, and the raw TP, TN, FP and FN values. (PDF 26 kb
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, ...
Primary analysis files for bioRxiv manuscript with id 2019/859603 (https://www.biorxiv.org/content/1...
Prediction performance for the PRDIS specific predictors in this work for VS228; each corresponds to...
Success rate of the coincidence rule, for the all the different combinations of reference predictors...
Comparison between PPV values for PRDIS specific and reference predictors. The figure shows that com...
Neutral variants. Each line corresponds to a variant, providing: the amino acid replacement and its ...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
In the coincidence rule (see main text) computational information is accepted as supporting evidence...
<p>Each predictor yields its own type of results, usually quantitative and categorical. We have chos...
This is the final version. Available on open access from BMJ Publishing Group via the DOI in this re...
Dataset used for testing the calibration of 6 methods for predicting the impact of single nucleotide...
Table S7. Estimated accuracy and standard deviation of the RFE procedure. Table S8. Accuracy and Kap...
doi: 10.1002/mgg3.116 Current practice by clinical diagnostic laboratories is to utilize online pred...
ABSTRACT: Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in hu...
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, ...
Primary analysis files for bioRxiv manuscript with id 2019/859603 (https://www.biorxiv.org/content/1...
Prediction performance for the PRDIS specific predictors in this work for VS228; each corresponds to...
Success rate of the coincidence rule, for the all the different combinations of reference predictors...
Comparison between PPV values for PRDIS specific and reference predictors. The figure shows that com...
Neutral variants. Each line corresponds to a variant, providing: the amino acid replacement and its ...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
In the coincidence rule (see main text) computational information is accepted as supporting evidence...
<p>Each predictor yields its own type of results, usually quantitative and categorical. We have chos...
This is the final version. Available on open access from BMJ Publishing Group via the DOI in this re...
Dataset used for testing the calibration of 6 methods for predicting the impact of single nucleotide...
Table S7. Estimated accuracy and standard deviation of the RFE procedure. Table S8. Accuracy and Kap...
doi: 10.1002/mgg3.116 Current practice by clinical diagnostic laboratories is to utilize online pred...
ABSTRACT: Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in hu...
Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functio...
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, ...
Primary analysis files for bioRxiv manuscript with id 2019/859603 (https://www.biorxiv.org/content/1...