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- 2017
-
Mark
How to Define Pathogenicity, Health, and Disease?
(
- Contribution to journal › Article
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Mark
PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned
(
- Contribution to journal › Article
-
Mark
Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
(
- Contribution to journal › Article
-
Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article
-
Mark
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
(
- Contribution to journal › Article
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Mark
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
(
- Contribution to journal › Debate/Note/Editorial
- 2016
-
Mark
VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.
(
- Contribution to journal › Article
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Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
-
Mark
Human Variome Project Quality Assessment Criteria for Variation Databases.
(
- Contribution to journal › Article
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Mark
Both Generic and Protein-Specific Tolerance Predictors Are Needed
(
- Contribution to journal › Debate/Note/Editorial