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Pastinen, Tomi

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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 Type	Name
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.

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