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Pastinen, Tomi

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

Property	Value
keywords	Genomics
preferred title	Director, Center for Pediatric Genomic Medicine
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 Type	Name
Concept	Medicine
Concept	Genomic Imprinting
Concept	Genomic Instability
Concept	Precision Medicine
Academic Article	A survey of genetic and epigenetic variation affecting human gene expression.
Academic Article	Mapping cis-acting regulatory variation in recombinant congenic strains.
Academic Article	Systematic assessment of the human osteoblast transcriptome in resting and induced primary cells.
Academic Article	Population genomics in a disease targeted primary cell model.
Academic Article	Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines.
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	Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Academic Article	Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
Academic Article	Genome-wide assessment of imprinted expression in human cells.
Academic Article	The commercialization of genomic research in Canada.
Academic Article	Use of genome-wide association studies for drug repositioning.
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	Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.
Academic Article	Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Academic Article	Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.
Academic Article	Optimizing ChIP-seq peak detectors using visual labels and supervised machine learning.
Academic Article	Are Data Sharing and Privacy Protection Mutually Exclusive?
Academic Article	Conserved expression of transposon-derived non-coding transcripts in primate stem cells.
Academic Article	Pioneer factor Pax7 deploys a stable enhancer repertoire for specification of cell fate.
Academic Article	Hidden genomic MHC disparity between HLA-matched sibling pairs in hematopoietic stem cell transplantation.
Academic Article	Genomic prediction of relapse in recipients of allogeneic haematopoietic stem cell transplantation.
Academic Article	Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene.
Academic Article	Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes.
Academic Article	Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in na?ve CD4+ T cells.
Academic Article	Personalized and graph genomes reveal missing signal in epigenomic data.
Academic Article	Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells.
Academic Article	Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.
Academic Article	Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
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	The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century.
Academic Article	Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Academic Article	Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment.
Academic Article	Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository.
Academic Article	Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

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Pediatric
Genomic
Medicine