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Search Results to Tomi Pastinen

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Pastinen, Tomi

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

Item Type	Name
Concept	Alleles
Academic Article	Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation.
Academic Article	Golli-MBP gene in multiple sclerosis susceptibility.
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	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	Influence of human genome polymorphism on gene expression.
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	A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
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	Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Academic Article	Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
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	Genome-wide allele-specific analysis: insights into regulatory variation.
Academic Article	Genome-wide assessment of imprinted expression in human cells.
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	Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.
Academic Article	Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome.
Academic Article	Genetic implication of a novel thiamine transporter in human hypertension.
Academic Article	Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping.
Academic Article	Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Academic Article	DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis.
Academic Article	Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.
Academic Article	Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.
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	The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Academic Article	Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.
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	Accuracy of Programs for the Determination of Human Leukocyte Antigen Alleles from Next-Generation Sequencing Data.
Academic Article	Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Academic Article	Hidden genomic MHC disparity between HLA-matched sibling pairs in hematopoietic stem cell transplantation.
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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