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Search Results to Tomi Pastinen

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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 Genome, Human
Concept Human Genome Project
Concept Genome
Concept Genome, Insect
Concept Genome-Wide Association Study
Academic Article Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.
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 Cis-acting regulatory variation in the human genome.
Academic Article Survey of allelic expression using EST mining.
Academic Article A low-cost open-source SNP genotyping platform for association mapping applications.
Academic Article Influence of human genome polymorphism on gene expression.
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 Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
Academic Article A probabilistic approach for SNP discovery in high-throughput human resequencing data.
Academic Article Population genomics in a disease targeted primary cell model.
Academic Article Tissue effect on genetic control of transcript isoform variation.
Academic Article Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
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 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 Computational analysis of whole-genome differential allelic expression data in human.
Academic Article Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.
Academic Article Fine mapping of the insulin-induced gene 2 identifies a variant associated with LDL cholesterol and total apolipoprotein B levels.
Academic Article Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Academic Article RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression.
Academic Article Genome-wide assessment of imprinted expression in human cells.
Academic Article Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
Academic Article Human genetics in full resolution.
Academic Article Use of genome-wide association studies for drug repositioning.
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 Assessment of gene-by-sex interaction effect on bone mineral density.
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 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 Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome.
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 Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.
Academic Article Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping.
Academic Article Transient DNMT1 suppression reveals hidden heritable marks in the genome.
Academic Article An epigenome-wide association study of total serum immunoglobulin E concentration.
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 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 An evaluation of methods correcting for cell-type heterogeneity in DNA methylation studies.
Academic Article Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.
Academic Article Are Data Sharing and Privacy Protection Mutually Exclusive?
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 Pitx1 directly modulates the core limb development program to implement hindlimb identity.
Academic Article APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Academic Article Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Academic Article Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
Academic Article Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements.
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 Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Academic Article Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene.
Academic Article Personalized and graph genomes reveal missing signal in epigenomic data.
Academic Article Non-CG methylation and multiple histone profiles associate child abuse with immune and small GTPase dysregulation.
Academic Article Thousands of CpGs Show DNA Methylation Differences in ACPA-Positive Individuals.
Academic Article Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases.
Academic Article Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.
Academic Article Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Academic Article Genome graphs detect human polymorphisms in active epigenomic state during influenza infection.
Academic Article Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Academic Article Characterization and visualization of tandem repeats at genome scale.
Academic Article EpiVar Browser: advanced exploration of epigenomics data under controlled access.
Academic Article Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores.
Academic Article Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads.

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