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Search Results to Tomi Pastinen

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One or more keywords matched the following properties of Pastinen, Tomi

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research overview Dr. Pastinen has been the Director of the Center for Pediatric Genomic Medicine (CPGM) since 2017. Dr. Pastinen joined Children's Mercy from McGill University. He held the Canada Research Chair from 2007 to 2017 and has a significant track record of academic achievement. He has authored over 120 peer-reviewed publications, including papers in top-tier journals Cell and Nature Genetics. Prior to joining Children’s Mercy, he led the epigenome mapping center at McGill as part of the International Human Epigenome Consortium, which provides maps of genome function to the global research community. Dr. Pastinen is leading Genomic Answers for Kids, a foundational initiative for future genomic research at Children’s Mercy that aims to learn from 30,000 children with genetic conditions.

One or more keywords matched the following items that are connected to Pastinen, Tomi

Item TypeName
Concept Crosses, Genetic
Concept Dosage Compensation, Genetic
Concept Enhancer Elements, Genetic
Concept Epistasis, Genetic
Concept Genetic Complementation Test
Concept Genetic Markers
Concept Genetic Testing
Concept Genetic Techniques
Concept Genetics, Medical
Concept Genetics, Population
Concept Genetic Linkage
Concept Models, Genetic
Concept Polymorphism, Genetic
Concept Promoter Regions, Genetic
Concept Templates, Genetic
Concept Transcription, Genetic
Concept Genetic Variation
Concept Genetic Heterogeneity
Concept Genetic Predisposition to Disease
Concept Genetic Diseases, Inborn
Concept Databases, Genetic
Concept Genetic Privacy
Concept Animals, Genetically Modified
Concept Epigenesis, Genetic
Concept Genetic Loci
Concept Genetic Association Studies
Concept Transcription Elongation, Genetic
Academic Article Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation.
Academic Article Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.
Academic Article Immune system genes in multiple sclerosis: genetic association and linkage analyses on TCR beta, IGH, IFN-gamma and IL-1ra/IL-1 beta loci.
Academic Article Contribution of the CCR5 and MBL genes to susceptibility to HIV type 1 infection in the Finnish population.
Academic Article Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population.
Academic Article A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.
Academic Article Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays.
Academic Article Dissecting a population genome for targeted screening of disease mutations.
Academic Article HLA class II associated risk and protection against multiple sclerosis-a Finnish family study.
Academic Article Chromosome 19q13 and multiple sclerosis susceptibility in Finland: a linkage and two-stage association study.
Academic Article Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis.
Academic Article A survey of genetic and epigenetic variation affecting human gene expression.
Academic Article No evidence for an association between common nonsynonymous polymorphisms in delta and bristle number variation in natural and laboratory populations of Drosophila melanogaster.
Academic Article Cis-acting regulatory variation in the human genome.
Academic Article The effect of polymorphisms in the enhancer of split gene complex on bristle number variation in a large wild-caught cohort of Drosophila melanogaster.
Academic Article Survey of allelic expression using EST mining.
Academic Article Mapping common regulatory variants to human haplotypes.
Academic Article Mapping cis-acting regulatory variation in recombinant congenic strains.
Academic Article Influence of human genome polymorphism on gene expression.
Academic Article Association study between the CX3CR1 gene and asthma.
Academic Article Patterns of variation in DNA segments upstream of transcription start sites.
Academic Article Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.
Academic Article Targeted screening of cis-regulatory variation in human haplotypes.
Academic Article Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.
Academic Article Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
Academic Article Population genomics in a disease targeted primary cell model.
Academic Article Tissue effect on genetic control of transcript isoform variation.
Academic Article Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
Academic Article A cis-acting regulatory variant in the IL2RA locus.
Academic Article Global patterns of cis variation in human cells revealed by high-density allelic expression analysis.
Academic Article A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
Academic Article Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines.
Academic Article Analysis of the impact of genetic variation on human gene expression.
Academic Article An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
Academic Article Genome-wide allele-specific analysis: insights into regulatory variation.
Academic Article Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.
Academic Article Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Academic Article The study of eQTL variations by RNA-seq: from SNPs to phenotypes.
Academic Article RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression.
Academic Article Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
Academic Article Global analysis of the impact of environmental perturbation on cis-regulation of gene expression.
Academic Article Phosphodiesterase type 4D gene polymorphism: association with the response to short-acting bronchodilators in paediatric asthma patients.
Academic Article Human genetics in full resolution.
Academic Article Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines.
Academic Article Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Academic Article Promoter polymorphisms in CHI3L1 are associated with asthma.
Academic Article Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.
Academic Article Large-scale association analysis identifies new risk loci for coronary artery disease.
Academic Article Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.
Academic Article Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Academic Article Genome-wide association study of age at menarche in African-American women.
Academic Article Integration of high-resolution methylome and transcriptome analyses to dissect epigenomic changes in childhood acute lymphoblastic leukemia.
Academic Article Genome-wide search for exonic variants affecting translational efficiency.
Academic Article Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia.
Academic Article Reply to Rational drug repositioning by medical genetics.
Academic Article Genetic implication of a novel thiamine transporter in human hypertension.
Academic Article The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts.
Academic Article Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Academic Article An epigenome-wide association study of total serum immunoglobulin E concentration.
Academic Article Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci.
Academic Article Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.
Academic Article Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts.
Academic Article Epigenome data release: a participant-centered approach to privacy protection.
Academic Article High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.
Academic Article Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Academic Article Bacterial infection remodels the DNA methylation landscape of human dendritic cells.
Academic Article Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation.
Academic Article DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis.
Academic Article An evaluation of methods correcting for cell-type heterogeneity in DNA methylation studies.
Academic Article Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Academic Article Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Academic Article Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.
Academic Article The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Academic Article The International Human Epigenome Consortium Data Portal.
Academic Article Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.
Academic Article Combining omics data to identify genes associated with allergic rhinitis.
Academic Article Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.
Academic Article Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Academic Article Pitx1 directly modulates the core limb development program to implement hindlimb identity.
Academic Article Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.
Academic Article APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Academic Article Pioneer factor Pax7 deploys a stable enhancer repertoire for specification of cell fate.
Academic Article Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Academic Article Genomic prediction of relapse in recipients of allogeneic haematopoietic stem cell transplantation.
Academic Article Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
Academic Article Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
Academic Article Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements.
Academic Article Very long intergenic non-coding RNA transcripts and expression profiles are associated to specific childhood acute lymphoblastic leukemia subtypes.
Academic Article H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis.
Academic Article Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.
Academic Article Points-to-consider on the return of results in epigenetic research.
Academic Article Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing.
Academic Article Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism.
Academic Article Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in na?ve CD4+ T cells.
Academic Article Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.
Academic Article Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.
Academic Article Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Academic Article Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
Academic Article Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases.
Academic Article Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.
Academic Article Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature.
Academic Article The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century.
Academic Article A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Academic Article Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

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