Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning

por Vitsios, Dimitrios, Petrovski, Slavé
Publicado 2020

Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

por Petrovski, Slavé, Goldstein, David B.
Publicado 2016

MTR-Viewer: identifying regions within genes under purifying selection

por Silk, Michael, Petrovski, Slavé, Ascher, David B
Publicado 2019

eHealth as a Facilitator of Precision Medicine in Epilepsy

por Cavalleri, Gianpiero L., Petrovski, Slave, Fitzsimons, Mary, Delanty, Norman
Publicado 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

por Bennett, Caitlin A., Petrovski, Slavé, Oliver, Karen L., Berkovic, Samuel F.
Publicado 2017

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

por Vitsios, Dimitrios, Dhindsa, Ryan S., Middleton, Lawrence, Gussow, Ayal B., Petrovski, Slavé
Publicado 2021

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

por Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L., Allen, Andrew S., Goldstein, David B.
Publicado 2013

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

por Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L., Allen, Andrew S., Goldstein, David B.
Publicado 2013

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

por Gussow, Ayal B., Petrovski, Slavé, Wang, Quanli, Allen, Andrew S., Goldstein, David B.
Publicado 2016

Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses

por Middleton, Lawrence, Harper, Andrew R, Nag, Abhishek, Wang, Quanli, Reznichenko, Anna, Vitsios, Dimitrios, Petrovski, Slavé
Publicado 2022

Is a microRNA‐328 binding site in PAX6 associated with Rolandic epilepsy?

por McGlade, Amelia, Myers, Kenneth A., Berkovic, Samuel F., Scheffer, Ingrid E., Petrovski, Slavé, Hildebrand, Michael S.
Publicado 2017

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

por Petrovski, Slavé, Gussow, Ayal B., Wang, Quanli, Halvorsen, Matt, Han, Yujun, Weir, William H., Allen, Andrew S., Goldstein, David B.
Publicado 2015

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

por Traynelis, Joshua, Silk, Michael, Wang, Quanli, Berkovic, Samuel F., Liu, Liping, Ascher, David B., Balding, David J., Petrovski, Slavé
Publicado 2017

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

por Gussow, Ayal B., Copeland, Brett R., Dhindsa, Ryan S., Wang, Quanli, Petrovski, Slavé, Majoros, William H., Allen, Andrew S., Goldstein, David B.
Publicado 2017

Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

por Gussow, Ayal B., Copeland, Brett R., Dhindsa, Ryan S., Wang, Quanli, Petrovski, Slavé, Majoros, William H., Allen, Andrew S., Goldstein, David B.
Publicado 2018

Author Correction: DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

por Raies, Arwa, Tulodziecka, Ewa, Stainer, James, Middleton, Lawrence, Dhindsa, Ryan S., Hill, Pamela, Engkvist, Ola, Harper, Andrew R., Petrovski, Slavé, Vitsios, Dimitrios
Publicado 2023

DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

por Raies, Arwa, Tulodziecka, Ewa, Stainer, James, Middleton, Lawrence, Dhindsa, Ryan S., Hill, Pamela, Engkvist, Ola, Harper, Andrew R., Petrovski, Slavé, Vitsios, Dimitrios
Publicado 2022

Cancer-driving mutations are enriched in genic regions intolerant to germline variation

por Vitsios, Dimitrios, Dhindsa, Ryan S., Matelska, Dorota, Mitchell, Jonathan, Zou, Xuequing, Armenia, Joshua, Hu, Fengyuan, Wang, Quanli, Sidders, Ben, Harper, Andrew R., Petrovski, Slavé
Publicado 2022

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

por Shashi, Vandana, Petrovski, Slavé, Schoch, Kelly, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Publicado 2015

Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain

por Casillas-Espinosa, Pablo M., Powell, Kim L., Zhu, Mingfu, Campbell, C. Ryan, Maia, Jessica M., Ren, Zhong, Jones, Nigel C., O’Brien, Terence J., Petrovski, Slavé
Publicado 2017