Personalized and graph genomes reveal missing signal in epigenomic data по Cristian Groza, Tony Kwan, Nicole Soranzo, Tomi Pastinen, Guillaume Bourque

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Computational Analysis of HLA-presentation of Non-synonymous Recipient Mismatches Indicates Effect on the Risk of Chronic Graft-vs.-Host Disease After Allogeneic HSCT по Jarmo Ritari, Kati Hyvärinen, Satu Koskela, Riitta Niittyvuopio, Anne Nihtinen, Urpu Salmenniemi, Mervi Putkonen, Liisa Volin, Tony Kwan, Tomi Pastinen, Tomi Pastinen, Maija Itälä-Remes, Jukka Partanen

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Evolving data access policy: The Canadian context по Stephanie O.M. Dyke, Katie M. Saulnier, Tomi Pastinen, Guillaume Bourque, Yann Joly

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Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report по Alexandra Chapleau, Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Peter V. Gould, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

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P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* по Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

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Phosphodiesterase Type 4D Gene Polymorphism: Association with the Response to Short-Acting Bronchodilators in Paediatric Asthma Patients по Malgorzata Labuda, Sophie Laberge, Julie Brière, Denis Bérubé, Patrick Beaulieu, Tomi Pastinen, Maja Krajinovic

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Accuracy of Programs for the Determination of Human Leukocyte Antigen Alleles from Next-Generation Sequencing Data по Antti Larjo, Robert Eveleigh, Elina Kilpeläinen, Tony Kwan, Tomi Pastinen, Satu Koskela, Jukka Partanen

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Computational analysis of whole-genome differential allelic expression data in human. по James R Wagner, Bing Ge, Dmitry Pokholok, Kevin L Gunderson, Tomi Pastinen, Mathieu Blanchette

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Adverse Maternal Environments Perturb Hepatic DNA Methylome and Transcriptome Prior to the Adult-Onset Non-Alcoholic Fatty Liver Disease in Mouse Offspring по Qi Fu, Warren A. Cheung, Amber V. Majnik, Xingrao Ke, Tomi Pastinen, Robert H. Lane

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Novel insights into systemic autoimmune rheumatic diseases using shared molecular signatures and an integrative analysis по Marie Hudson, Sasha Bernatsky, Ines Colmegna, Maximilien Lora, Tomi Pastinen, Kathleen Klein Oros, Celia M. T. Greenwood

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Genotype-based test in mapping cis-regulatory variants from allele-specific expression data. по Jean Francois Lefebvre, Emilio Vello, Bing Ge, Stephen B Montgomery, Emmanouil T Dermitzakis, Tomi Pastinen, Damian Labuda

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Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report по Julia Macintosh, Julia Macintosh, Stefanie Perrier, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Luan T. Tran, Kether Guerrero, Kether Guerrero, Chitra Prasad, Chitra Prasad, Chitra Prasad, Asuri N. Prasad, Asuri N. Prasad, Tomi Pastinen, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Benoit Coulombe, Benoit Coulombe, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

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Immune cell residency in the nasal mucosa may partially explain respiratory disease severity across the age range по Konner Winkley, Dithi Banerjee, Todd Bradley, Boryana Koseva, Warren A. Cheung, Rangaraj Selvarangan, Tomi Pastinen, Elin Grundberg

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Eosinophil microRNAs Play a Regulatory Role in Allergic Diseases Included in the Atopic March по Émile Bélanger, Anne-Marie Madore, Anne-Marie Boucher-Lafleur, Marie-Michelle Simon, Tony Kwan, Tomi Pastinen, Catherine Laprise

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Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients по Jasmine A. McQuerry, Merry Mclaird, Samantha N. Hartin, John C. Means, Jeffrey Johnston, Tomi Pastinen, Scott T. Younger

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Very long intergenic non-coding RNA transcripts and expression profiles are associated to specific childhood acute lymphoblastic leukemia subtypes. по Maxime Caron, Pascal St-Onge, Simon Drouin, Chantal Richer, Thomas Sontag, Stephan Busche, Guillaume Bourque, Tomi Pastinen, Daniel Sinnett

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Effects of Prior Infection with SARS-CoV-2 on B Cell Receptor Repertoire Response during Vaccination по Elizabeth R. Fraley, Santosh Khanal, Stephen H. Pierce, Cas A. LeMaster, Rebecca McLennan, Tomi Pastinen, Todd Bradley

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Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature по Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard

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P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes* по Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen

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IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection по Megan H. Tucker, Wei Yu, Heather Menden, Sheng Xia, Carl F. Schreck, Margaret Gibson, Daniel Louiselle, Tomi Pastinen, Nikita Raje, Venkatesh Sampath

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