VarI-COSI 2018: a forum for research advances in variant interpretation and diagnostics

by Yana Bromberg, Emidio Capriotti, Hannah Carter
Published 2019-07-01

ThermoScan: Semi-automatic Identification of Protein Stability Data From PubMed

by Paola Turina, Piero Fariselli, Emidio Capriotti
Published 2021-03-01

DDGun: an untrained method for the prediction of protein stability changes upon single and multiple point variations

by Ludovica Montanucci, Emidio Capriotti, Yotam Frank, Nir Ben-Tal, Piero Fariselli
Published 2019-07-01

Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes

by Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Emidio Capriotti, Elisa Giorgio, Tiziana Sanavia
Published 2021-02-01

Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine

by Tiziana Sanavia, Giovanni Birolo, Ludovica Montanucci, Paola Turina, Emidio Capriotti, Piero Fariselli
Published 2020-01-01

Analysis and Interpretation of the Impact of Missense Variants in Cancer

by Maria Petrosino, Leonore Novak, Alessandra Pasquo, Roberta Chiaraluce, Paola Turina, Emidio Capriotti, Valerio Consalvi
Published 2021-05-01

A Deep-Learning Sequence-Based Method to Predict Protein Stability Changes Upon Genetic Variations

by Corrado Pancotti, Silvia Benevenuta, Valeria Repetto, Giovanni Birolo, Emidio Capriotti, Tiziana Sanavia, Piero Fariselli
Published 2021-06-01

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

by Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley
Published 2011-09-01