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

by Dimitrios Vitsios, Ryan S. Dhindsa, Lawrence Middleton, Ayal B. Gussow, Slavé Petrovski
Published 2021-03-01

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

by Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein
Published 2013-08-01

Genic intolerance to functional variation and the interpretation of personal genomes.

by Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein
Published 2013-01-01

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

by Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein
Published 2013-08-01

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

by Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, William H Majoros, Andrew S Allen, David B Goldstein
Published 2017-01-01

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

by Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, William H Majoros, Andrew S Allen, David B Goldstein
Published 2018-01-01

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

by Slavé Petrovski, Ayal B Gussow, Quanli Wang, Matt Halvorsen, Yujun Han, William H Weir, William H Weir, Andrew S Allen, David B Goldstein
Published 2015-09-01

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

by Pablo M Casillas-Espinosa, Kim L Powell, Mingfu Zhu, C Ryan Campbell, Jessica M Maia, Zhong Ren, Nigel C Jones, Terence J O'Brien, Slavé Petrovski
Published 2017-01-01

Annotating pathogenic non-coding variants in genic regions

by Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein
Published 2017-08-01

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays.

by Sahar Gelfman, Quanli Wang, Yi-Fan Lu, Diana Hall, Christopher D Bostick, Ryan Dhindsa, Matt Halvorsen, K Melodi McSweeney, Ellese Cotterill, Tom Edinburgh, Michael A Beaumont, Wayne N Frankel, Slavé Petrovski, Andrew S Allen, Michael J Boland, David B Goldstein, Stephen J Eglen
Published 2018-10-01

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

by Kevin K Ogden, Wenjuan Chen, Sharon A Swanger, Miranda J McDaniel, Linlin Z Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J Kosobucki, Anthony J Schulien, Zhuocheng Su, Joseph Pecha, Subhrajit Bhattacharya, Slavé Petrovski, Adam E Cohen, Elias Aizenman, Stephen F Traynelis, Hongjie Yuan
Published 2017-01-01

Correction: Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure.

by Jairam R. Lingappa, Slavé Petrovski, Erin Kahle, Jacques Fellay, Kevin Shianna, M. Juliana McElrath, Katherine K. Thomas, Jared M. Baeten, Connie Celum, Anna Wald, Guy de Bruyn, James I. Mullins, Edith Nakku-Joloba, Carey Farquhar, Max Essex, Deborah Donnell, James Kiarie, Bart Haynes, David Goldstein
Published 2012-01-01

Correction: Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure

by Jairam R. Lingappa, Slavé Petrovski, Erin Kahle, Jacques Fellay, Kevin Shianna, M. Juliana McElrath, Katherine K. Thomas, Jared M. Baeten, Connie Celum, Anna Wald, Guy de Bruyn, James I. Mullins, Edith Nakku-Joloba, Carey Farquhar, Max Essex, Deborah Donnell, James Kiarie, Bart Haynes, David Goldstein, for the Partners in Prevention HSV/HIV Transmission Study Team
Published 2012-01-01

Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.

by Jairam R Lingappa, Slavé Petrovski, Erin Kahle, Jacques Fellay, Kevin Shianna, M Juliana McElrath, Katherine K Thomas, Jared M Baeten, Connie Celum, Anna Wald, Guy de Bruyn, James I Mullins, Edith Nakku-Joloba, Carey Farquhar, Max Essex, Deborah Donnell, James Kiarie, Bart Haynes, David Goldstein, Partners in Prevention HSV/HIV Transmission Study Team
Published 2011-01-01

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy

by Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, EpiPGx Consortium, Samuel Berkovic, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Slave Petrovski, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M. Sisodiya, Simon L. Girard, Patrick Cossette
Published 2021-07-01

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

by Ryan S. Dhindsa, Johan Mattsson, Abhishek Nag, Quanli Wang, Louise V. Wain, Richard Allen, Eleanor M. Wigmore, Kristina Ibanez, Dimitrios Vitsios, Sri V. V. Deevi, Sebastian Wasilewski, Maria Karlsson, Glenda Lassi, Henric Olsson, Daniel Muthas, Susan Monkley, Alex Mackay, Lynne Murray, Simon Young, Carolina Haefliger, FinnGen Consortium, Toby M. Maher, Maria G. Belvisi, Gisli Jenkins, Philip L. Molyneaux, Adam Platt, Slavé Petrovski
Published 2021-03-01