Publications
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2024. A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.  NPJ Genom Med 9(1):8
, 2024. Pangenome graphs improve the analysis of structural variants in rare genetic diseases.  Nat Commun 15(1):657
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2023. Author Correction: The repertoire of mutational signatures in human cancer.  Nature 614(7948):E41
, 2023. Author Correction: The landscape of viral associations in human cancers.  Nat Genet 55(6):1077
, 2023. Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.  Nat Genet 55(6):1076
, 2023. Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers.  Nat Genet 55(6):1078
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2023. Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.  Clin Cancer Res 29(7):1220-1231
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2023. Author Correction: Patterns of somatic structural variation in human cancer genomes.  Nature 614(7948):E38
, 2023. Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.  Nat Genet 55(6):1080
, 2023. Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.  Nature 614(7948):E40
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2023. A Pangenome Approach to Detect and Genotype TE Insertion Polymorphisms.  Methods Mol Biol 2607:85-94
, 2023. Genotyping of Transposable Element Insertions Segregating in Human Populations Using Short-Read Realignments.  Methods Mol Biol 2607:63-83
, 2023. Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.  Nat Genet 55(6):1079
, 2023. Genetic variation in the Y chromosome and sex-biased DNA methylation in somatic cells in the mouse.  Mamm Genome 34(1):44-55
, 2023. Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes.  Nat Biotechnol 41(4):577
, 2023. Transposable elements are associated with the variable response to influenza infection.  Cell Genom 3(5):100292
, 2023. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.  Nat Med 29(4):950-962
, 2023. A second update on mapping the human genetic architecture of COVID-19.  Nature 621(7977):E7-E26
2023. Selection for immune evasion in SARS-CoV-2 revealed by high-resolution epitope mapping and sequence analysis.  iScience 26(8):107394
, 2023. Glucocorticoid stimulation induces regionalized gene responses within topologically associating domains.  Front Genet 14:1237092
, 2023. ZMYM2 is essential for methylation of germline genes and active transposons in embryonic development.  Nucleic Acids Res 51(14):7314-7329
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2023. Genome graphs detect human polymorphisms in active epigenomic state during influenza infection.  Cell Genom 3(5):100294
, 2023. Capturing sex-specific and hypofertility-linked effects of assisted reproductive technologies on the cord blood DNA methylome.  Clin Epigenetics 15(1):82
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2023. Recombination between heterologous human acrocentric chromosomes.  Nature 617(7960):335-343
, 2023. Increased mutation and gene conversion within human segmental duplications.  Nature 617(7960):325-334
, 2023. Pangenome graph construction from genome alignments with Minigraph-Cactus.  Nat Biotechnol.
, 2023. Gaps and complex structurally variant loci in phased genome assemblies.  Genome Res 33(4):496-510
, 2023. Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome.  Cell Rep Methods 3(8):100543
, 2022. Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations.  Genome Biol 23(1):13
, 2022. Glioblastoma scRNA-seq shows treatment-induced, immune-dependent increase in mesenchymal cancer cells and structural variants in distal neural stem cells.  Neuro Oncol 24(9):1494-1508
, 2022. Intra-Tumoral CD8+ T-Cell Infiltration and PD-L1 Positivity in Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.  Front Oncol 12:860767
, 2022. A systems biology approach identifies candidate drugs to reduce mortality in severely ill patients with COVID-19.  Sci Adv 8(22):eabm2510
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2022. The amino acid sensor GCN2 suppresses terminal oligopyrimidine (TOP) mRNA translation via La-related protein 1 (LARP1).  J Biol Chem 298(9):102277
, 2022. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.  PLoS Genet 18(11):e1010367
, 2022. More than a 'Hundred Days War': Persistent SARS-CoV-2 infection in a patient with ANCA-associated vasculitis.  J Assoc Med Microbiol Infect Dis Can 7(2):131-134
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2022. Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.  Nat Commun 13(1):7567
, 2022. Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours.  Nat Commun 13(1):7569
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2022. Author Correction: Integrative pathway enrichment analysis of multivariate omics data.  Nat Commun 13(1):7570
, 2022. Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns.  Nat Commun 13(1):7573
, 2022. Author Correction: Inferring structural variant cancer cell fraction.  Nat Commun 13(1):7568
, 2022. Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower.  Nat Commun 13(1):7571
, 2022. Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer.  Nat Commun 13(1):7574
, 2022. Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes.  Nat Commun 13(1):7566
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2022. Author Correction: Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis.  Commun Biol 5(1):1347
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2021. Ultrafast functional profiling of RNA-seq data for nonmodel organisms.  Genome Res 31(4):713-720
, 2021. A coordinated progression of progenitor cell states initiates urinary tract development.  Nat Commun 12(1):2627
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2021. Invasive growth associated with cold-inducible RNA-binding protein expression drives recurrence of surgically resected brain metastases.  Neuro Oncol 23(9):1470-1480
, 2021. The Cowpea Kinome: Genomic and Transcriptomic Analysis Under Biotic and Abiotic Stresses.  Front Plant Sci 12:667013
, 2021. Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.  J Clin Invest 131.
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2021. Inferring Copy Number from Triple-Negative Breast Cancer Patient Derived Xenograft scRNAseq Data Using scCNA.  Methods Mol Biol 2381:285-303
, 2021. A small number of early introductions seeded widespread transmission of SARS-CoV-2 in Québec, Canada.  Genome Med 13(1):169
, 2021. Inherent genomic properties underlie the epigenomic heterogeneity of human induced pluripotent stem cells.  Cell Rep 37(5):109909
, 2021. CanDIG: Federated network across Canada for multi-omic and health data discovery and analysis.  Cell Genom 1(2):100033
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2021. GA4GH: International policies and standards for data sharing across genomic research and healthcare.  Cell Genom 1.
, 2020. A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns.  Nat Commun 11(1):728
, 2020. Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.  Nat Genet 52(3):294-305
, 2020. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.  Nat Genet 52(3):306-319
, 2020. Comprehensive molecular characterization of mitochondrial genomes in human cancers.  Nat Genet 52(3):342-352
, 2020. Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis.  Commun Biol 3(1):56
, 2020. Butler enables rapid cloud-based analysis of thousands of human genomes.  Nat Biotechnol 38(3):288-292
, 2020. Pathway and network analysis of more than 2500 whole cancer genomes.  Nat Commun 11(1):729
, 2020. Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.  Nat Genet 52(3):331-341
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2020. Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.  Nat Commun 11(1):731
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2020. Divergent mutational processes distinguish hypoxic and normoxic tumours.  Nat Commun 11(1):737
, 2020. Combined burden and functional impact tests for cancer driver discovery using DriverPower.  Nat Commun 11(1):734
, 2020. Genomic footprints of activated telomere maintenance mechanisms in cancer.  Nat Commun 11(1):733
, 2020. A point mutation in the linker domain of mouse STAT5A is associated with impaired NK-cell regulation.  Genes Immun 21(2):136-141
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2020. Machine learning algorithms for simultaneous supervised detection of peaks in multiple samples and cell types.  Pac Symp Biocomput 25:367-378
, 2020. Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy.  Nat Commun 11(1):3406
, 2020. Patterns of somatic structural variation in human cancer genomes.  Nature 578(7793):112-121
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2020. Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.  Nat Commun 11(1):6232
, 2020. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.  Nat Commun 11(1):4748
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2020. Author Correction: Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy.  Nat Commun 11(1):4041
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2020. Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells.  Sci Data 7(1):376
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2020. Personalized and graph genomes reveal missing signal in epigenomic data.  Genome Biol 21(1):124
, 2020. Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.  Nature 578(7793):102-111
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2020. Single-cell analysis of human adipose tissue identifies depot and disease specific cell types.  Nat Metab 2(1):97-109
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2020. Transposable elements have contributed human regulatory regions that are activated upon bacterial infection.  Philos Trans R Soc Lond B Biol Sci 375(1795):20190332
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2019. A hidden markov model for identifying differentially methylated sites in bisulfite sequencing data.  Biometrics 75(1):210-221
, 2019. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.  Circ Res 124(4):553-563
, 2019. eFORGE v2.0: updated analysis of cell type-specific signal in epigenomic data.  Bioinformatics 35(22):4767-4769
, 2019. GenPipes: an open-source framework for distributed and scalable genomic analyses.  Gigascience 8.
, 2019. Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism.  Environ Health Perspect 127(8):87002
, 2019. Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations.  Nat Commun 10(1):4856
, 2019. Stalled developmental programs at the root of pediatric brain tumors.  Nat Genet 51(12):1702-1713
, 2019. Benefits and barriers in the design of harmonized access agreements for international data sharing.  Sci Data 6(1):297
, 2019. The epiGenomic Efficient Correlator (epiGeEC) tool allows fast comparison of user datasets with thousands of public epigenomic datasets.  Bioinformatics 35(4):674-676
, 2018. MetaboAnalyst 4.0: towards more transparent and integrative metabolomics analysis.  Nucleic Acids Res 46(W1):W486-W494
, 2018. Identifying co-opted transposable elements using comparative epigenomics.  Dev Growth Differ 60(1):53-62
, 2018. Loss of the zona pellucida-binding protein 2 (Zpbp2) gene in mice impacts airway hypersensitivity and lung lipid metabolism in a sex-dependent fashion.  Mamm Genome 29(3-4):281-298
, 2018. Global characterization of copy number variants in epilepsy patients from whole genome sequencing.  PLoS Genet 14(4):e1007285
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2018. Human copy number variants are enriched in regions of low mappability.  Nucleic Acids Res 46(14):7236-7249
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2018. Targeting EZH2 reactivates a breast cancer subtype-specific anti-metastatic transcriptional program.  Nat Commun 9(1):2547
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2017. Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.  Genome Biol 18(1):18
, 2017. Conserved expression of transposon-derived non-coding transcripts in primate stem cells.  BMC Genomics 18(1):214
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2017. Nuclear mTOR acts as a transcriptional integrator of the androgen signaling pathway in prostate cancer.  Genes Dev 31(12):1228-1242
, 2017. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.  Neurobiol Aging 59:220.e1-220.e9
, 2017. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.  Am J Hum Genet 101(5):664-685
, 2017. Optimizing ChIP-seq peak detectors using visual labels and supervised machine learning.  Bioinformatics 33(4):491-499
, 2016. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.  Eur J Hum Genet 24(5):710-6
, 2016. The PGC-1α/ERRα Axis Represses One-Carbon Metabolism and Promotes Sensitivity to Anti-folate Therapy in Breast Cancer.  Cell Rep 14(4):920-931
, 2016. Control of embryonic stem cell self-renewal and differentiation via coordinated alternative splicing and translation of YY2.  Proc Natl Acad Sci U S A 113(44):12360-12367
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2016. ERRα mediates metabolic adaptations driving lapatinib resistance in breast cancer.  Nat Commun 7:12156
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2016. In Silico Methods to Identify Exapted Transposable Element Families.  Methods Mol Biol 1400:33-45
, 2016. eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data.  Cell Rep 17(8):2137-2150
, 2016. Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.  Cancer Cell 30(6):891-908
, 2016. Variations in 5-methylcytosine and 5-hydroxymethylcytosine among human brain, blood, and saliva using oxBS and the Infinium MethylationEPIC array.  Biol Methods Protoc 1(1):1-8
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2016. The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery.  Cell 167(5):1145-1149
, 2016. Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.  Nat Commun 7:13555
, 2016. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.  Cell 167(5):1415-1429.e19
, 2016. Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.  Cell 167(5):1398-1414.e24
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2015. High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.  Hum Mol Genet 24(22):6301-13
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2015. Epigenome data release: a participant-centered approach to privacy protection.  Genome Biol 16(1):142
, 2015. A replication study for association of 53 single nucleotide polymorphisms in ScoliScore test with adolescent idiopathic scoliosis in French-Canadian population.  Spine (Phila Pa 1976) 40(8):537-43
, 2015. Transient DNMT1 suppression reveals hidden heritable marks in the genome.  Nucleic Acids Res 43(3):1485-97
, 2014. Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation.  Blood 124(12):1894-904
, 2014. Tissue factor expression provokes escape from tumor dormancy and leads to genomic alterations.  Proc Natl Acad Sci U S A 111(9):3544-9
, 2014. The retrovirus HERVH is a long noncoding RNA required for human embryonic stem cell identity.  Nat Struct Mol Biol 21(4):423-5
, 2014. Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.  Nat Genet 46(5):451-6
, 2014. Mouse ENU Mutagenesis to Understand Immunity to Infection: Methods, Selected Examples, and Perspectives.  Genes (Basel) 5(4):887-925
, 2014. Variation in genomic landscape of clear cell renal cell carcinoma across Europe.  Nat Commun 5:5135
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2013. SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.  Nat Cell Biol 15(10):1141-1152
, 2013. The majority of primate-specific regulatory sequences are derived from transposable elements.  PLoS Genet 9(5):e1003504
, 2013. Transposable elements are major contributors to the origin, diversification, and regulation of vertebrate long noncoding RNAs.  PLoS Genet 9(4):e1003470
, 2013. Molecular and genetic crosstalks between mTOR and ERRα are key determinants of rapamycin-induced nonalcoholic fatty liver.  Cell Metab 17(4):586-98
, 2012. Whole-genome reconstruction and mutational signatures in gastric cancer.  Genome Biol 13(12):R115
, 2012. PPARG binding landscapes in macrophages suggest a genome-wide contribution of PU.1 to divergent PPARG binding in human and mouse.  PLoS One 7(10):e48102
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2012. K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.  Acta Neuropathol 124(3):439-47
, 2012. Ecotopic viral integration site 1 (EVI1) regulates multiple cellular processes important for cancer and is a synergistic partner for FOS protein in invasive tumors.  Proc Natl Acad Sci U S A 109(6):2168-73
, 2011. Zebrafish mRNA sequencing deciphers novelties in transcriptome dynamics during maternal to zygotic transition.  Genome Res 21(8):1328-38
, 2011. Transcriptional consequences of genomic structural aberrations in breast cancer.  Genome Res 21(5):676-87
, 2011. Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes.  Genome Res 21(5):665-75
, 2011. CTCF-mediated functional chromatin interactome in pluripotent cells.  Nat Genet 43(7):630-8
, 2011. In silico tandem affinity purification refines an Oct4 interaction list.  Stem Cell Res Ther 2(3):26
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2011. CpG deamination creates transcription factor-binding sites with high efficiency.  Genome Biol Evol 3:1304-11
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2010. Transposable elements have rewired the core regulatory network of human embryonic stem cells.  Nat Genet 42(7):631-4
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2010. webMGR: an online tool for the multiple genome rearrangement problem.  Bioinformatics 26(3):408-10
, 2009. Inferring direct regulatory targets of a transcription factor in the DREAM2 challenge.  Ann N Y Acad Sci 1158:215-23
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2009. Transposable elements in gene regulation and in the evolution of vertebrate genomes.  Curr Opin Genet Dev 19(6):607-12
, 2008. Regulation of estrogen receptor-mediated long range transcription via evolutionarily conserved distal response elements.  J Biol Chem 283(47):32977-88
, 2008. Evolution of the mammalian transcription factor binding repertoire via transposable elements.  Genome Res 18(11):1752-62
, 2008. Computational tools for the analysis of rearrangements in mammalian genomes.  Methods Mol Biol 422:145-70
, 2008. Computational tools for the analysis of rearrangements in mammalian genomes.  Methods Mol Biol 452:431-55
, 2008. Integration of external signaling pathways with the core transcriptional network in embryonic stem cells.  Cell 133(6):1106-17
, 2008. A comparative synteny map of Burkholderia species links large-scale genome rearrangements to fine-scale nucleotide variation in prokaryotes.  Mol Biol Evol 25(3):549-58
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2007. Whole-genome mapping of histone H3 Lys4 and 27 trimethylations reveals distinct genomic compartments in human embryonic stem cells.  Cell Stem Cell 1(3):286-98
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2006. Multiplatform genome-wide identification and modeling of functional human estrogen receptor binding sites.  Genome Biol 7(9):R82
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2006. The Oct4 and Nanog transcription network regulates pluripotency in mouse embryonic stem cells.  Nat Genet 38(4):431-40
, 2006. The convergence of cytogenetics and rearrangement-based models for ancestral genome reconstruction.  Genome Res 16(3):311-3
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2005. Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps.  Science 309(5734):613-7
, 2005. Comparative architectures of mammalian and chicken genomes reveal highly variable rates of genomic rearrangements across different lineages.  Genome Res 15(1):98-110
, 2004. Improving gene network inference by comparing expression time-series across species, developmental stages or tissues.  J Bioinform Comput Biol 2(4):765-83
, 2004. Reconstructing the genomic architecture of ancestral mammals: lessons from human, mouse, and rat genomes.  Genome Res 14(4):507-16
, 2004. Genome sequence of the Brown Norway rat yields insights into mammalian evolution.  Nature 428(6982):493-521
, 2003. Reconstructing the genomic architecture of mammalian ancestors using multispecies comparative maps.  Hum Genomics 1(1):30-40
, 2002. Genome-scale evolution: reconstructing gene orders in the ancestral species.  Genome Res 12(1):26-36
, Publication list retrieved from NCBI using ImpactPubs