R
Robert Eveleigh
Researcher at McGill University
Publications - 23
Citations - 520
Robert Eveleigh is an academic researcher from McGill University. The author has contributed to research in topics: Population & Medicine. The author has an hindex of 10, co-authored 18 publications receiving 270 citations.
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Journal ArticleDOI
GenPipes: an open-source framework for distributed and scalable genomic analyses
Mathieu Bourgey,Rola Dali,Robert Eveleigh,Kuang Chung Chen,Louis Letourneau,Joel Fillon,Marc Michaud,Maxime Caron,Johanna Sandoval,Francois Lefebvre,Gary Leveque,Eloi Mercier,David Bujold,Pascale Marquis,Patrick Tran Van,David Anderson de Lima Morais,Julien Tremblay,Xiaojian Shao,Edouard Henrion,Emmanuel Gonzalez,Pierre-Olivier Quirion,B. Caron,Guillaume Bourque +22 more
TL;DR: GenPipes is a flexible Python-based framework that facilitates the development and deployment of multi-step workflows optimized for high-performance computing clusters and the cloud, and offers genomics researchers a simple method to analyze different types of data.
Journal ArticleDOI
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Donna J. Page,Matthieu J. Miossec,Matthieu J. Miossec,Simon G. Williams,Richard M. Monaghan,Elisavet Fotiou,Heather J. Cordell,Louise Sutcliffe,Ana Töpf,Mathieu Bourgey,Guillaume Bourque,Robert Eveleigh,Sally L. Dunwoodie,Sally L. Dunwoodie,Sally L. Dunwoodie,D Winlaw,D Winlaw,D Winlaw,Shoumo Bhattacharya,Shoumo Bhattacharya,Jeroen Breckpot,Jeroen Breckpot,Koenraad Devriendt,Marc Gewillig,J. David Brook,Kerry Setchfield,Frances A. Bu'Lock,John O'Sullivan,Graham Stuart,Connie R. Bezzina,Barbara J.M. Mulder,Alex V. Postma,James R. Bentham,Martin Baron,Sanjeev S. Bhaskar,Graeme C.M. Black,William G. Newman,Kathryn E. Hentges,G. Mark Lathrop,Mauro Santibanez-Koref,Bernard Keavney +40 more
TL;DR: The NOTCH1 locus is the most frequent site of genetic variants predisposing to nonsyndromic TOF, followed by FLT4, and variants in these genes are found in almost 7% of TOF patients.
Posted ContentDOI
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
Nathan D. Olson,Justin Wagner,Jennifer McDaniel,Sarah H. Stephens,Samuel T. Westreich,Anish G. Prasanna,Elaine Johanson,Ezekiel J. Maier,Emily Boja,Omar Serang,David Jáspez,José M. Lorenzo-Salazar,Adrián Muñoz-Barrera,Luis A. Rubio-Rodríguez,Carlos Flores,Konstantinos Kyriakidis,Konstantinos Kyriakidis,Andigoni Malousi,Andigoni Malousi,Kishwar Shafin,Trevor Pesout,Miten Jain,Benedict Paten,Pi-Chuan Chang,Alexey Kolesnikov,Maria Nattestad,Gunjan Baid,Sidharth Goel,Howard Yang,Andrew Carroll,Robert Eveleigh,Mathieu Bourgey,Guillaume Bourque,Gen Li,ChouXian Ma,LinQi Tang,YuanPing Du,ShaoWei Zhang,Jordi Morata,Raul Tonda,Genís Parra,Jean-Rémi Trotta,Christian Brueffer,Sinem Demirkaya-Budak,Duygu Kabakci-Zorlu,Deniz Turgut,Özem Kalay,Gungor Budak,Kübra Narcı,Elif Arslan,Richard J. C. Brown,Ivan E. Johnson,Alexey Dolgoborodov,Vladimir Semenyuk,Amit Jain,H. Serhat Tetikol,Varun Jain,Mike Ruehle,Bryan R. Lajoie,Cooper Roddey,Severine Catreux,Rami Mehio,Mian Umair Ahsan,Qian Liu,Kai Wang,Kai Wang,Sayed Mohammad Ebrahim Sahraeian,Li Tai Fang,Marghoob Mohiyuddin,Calvin Hung,Chirag Jain,Hanying Feng,Zhipan Li,Luoqi Chen,Fritz J. Sedlazeck,Justin M. Zook +75 more
TL;DR: The precisionFDA Truth Challenge V2 aimed to assess the state-of-the-art of variant calling in difficult-to-map regions and the Major Histocompatibility Complex and new methods out-performed the 2016 Truth Challenge winners.
Journal ArticleDOI
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
Gundula Povysil,Guillaume Butler-Laporte,Ning Shang,Chen Wang,Atlas Khan,Manal Alaamery,Tomoko Nakanishi,Sirui Zhou,Vincenzo Forgetta,Robert Eveleigh,Mathieu Bourgey,Naveed Aziz,Steven J.M. Jones,Bartha Maria Knoppers,Stephen W. Scherer,Lisa J. Strug,Pierre Lepage,Jiannis Ragoussis,Guillaume Bourque,Jahad Alghamdi,Nora Aljawini,Nour Albes,Hani M. Al-Afghani,Bader Alghamdi,Mansour S Almutairi,Ebrahim Mahmoud,Leen Abu-Safieh,Hadeel El Bardisy,Fawz S. Al Harthi,Abdulraheem Alshareef,Bandar A. Suliman,Saleh A. Alqahtani,Abdulaziz Almalik,May Alrashed,Salam Massadeh,Vincent Mooser,Mark Lathrop,Mohamed Fawzy,Yaseen M. Arabi,Hamdi Mbarek,Chadi Saad,Wadha Al-Muftah,Junghyun Jung,Serghei Mangul,Radja Badji,Asma Al Thani,Said I. Ismail,Ali G. Gharavi,Malak Abedalthagafi,J. Brent Richards,David Goldstein,Krzysztof Kiryluk +51 more
TL;DR: In this article, rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases.
Journal ArticleDOI
Identification of Elongated Primary Cilia with Impaired Mechanotransduction in Idiopathic Scoliosis Patients
TL;DR: In this article, the authors demonstrate significant elongation of primary cilia in IS patient bone cells, which may be linked to heterogeneous gene variants pertaining to cellular mechanotransduction.