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2017
Mark PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned
Niroula, Abhishek ^LU and Vihinen, Mauno ^LU (2017) In Human Mutation 38(9). p.1085-1091
- Contribution to journal › Article
Mark Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
Carraro, Marco ; Minervini, Giovanni ; Giollo, Manuel ; Bromberg, Yana ; Capriotti, Emidio ; Casadio, Rita ; Dunbrack, Roland ; Elefanti, Lisa ; Fariselli, Pietro and Ferrari, Carlo , et al. (2017) In Human Mutation 38(9). p.1042-1050
- Contribution to journal › Article
Mark Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
Schaafsma, Gerard C.P. ^LU and Vihinen, Mauno ^LU (2017) In Human Mutation 38(7). p.839-848
- Contribution to journal › Article
Mark Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
Daneshjou, Roxana ; Wang, Yanran ; Bromberg, Yana ; Bovo, Samuele ; Martelli, Pier Luigi ; Babbi, Giulia ; Lena, Pietro Di ; Casadio, Rita ; Edwards, Matthew and Gifford, David , et al. (2017) In Human Mutation 38(9). p.1182-1192
- Contribution to journal › Article
Mark How to Define Pathogenicity, Health, and Disease?
Vihinen, Mauno ^LU (2017) In Human Mutation 38(2). p.129-136
- Contribution to journal › Article
Mark One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
Vihinen, Mauno ^LU (2017) In Human Mutation 38(3). p.241-241
- Contribution to journal › Debate/Note/Editorial
2016
Mark ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng, Bobby G ; Shiryaev, Sergey A ; Rymen, Daisy ; Eklund, Erik ^LU ; Raymond, Kimiyo ; Kircher, Martin ; Abdenur, Jose E ; Alehan, Fusun ; Midro, Alina T and Bamshad, Michael J , et al. (2016) In Human Mutation
- Contribution to journal › Article
Mark Human Variome Project Quality Assessment Criteria for Variation Databases.
Vihinen, Mauno ^LU ; Hancock, John M ; Maglott, Donna R ; Landrum, Melissa J ; Schaafsma, Gerard ^LU and Taschner, Peter (2016) In Human Mutation 37(6). p.549-549
- Contribution to journal › Article
Mark VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.
Schaafsma, Gerard ^LU and Vihinen, Mauno ^LU (2016) In Human Mutation 37(4). p.344-349
- Contribution to journal › Article
Mark Variation Interpretation Predictors : Principles, Types, Performance, and Choice
Niroula, Abhishek ^LU and Vihinen, Mauno ^LU (2016) In Human Mutation 37(6). p.579-597
- Contribution to journal › Article

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