List of works - Tomi Pastinen

An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits

scientific article

Assessment of gene-by-sex interaction effect on bone mineral density

scientific article (publication date: October 2012)

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.

scientific article

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants ⬇️

scientific article

Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro

scientific article published in December 2009

DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis

scientific article published on 30 March 2016

Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants

scientific article published in Nature Communications

Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

scientific article published on 11 September 2018

Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome

scientific article published on 10 March 2017

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

scientific article

Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism

scientific article published on September 2017

Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma

scientific article published on 07 September 2018

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

scientific article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

scientific article published on 12 March 2018

Population genomics in a disease targeted primary cell model

scientific article published on 04 August 2009

Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation

scientific article

Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer

scientific article published in October 2018

TCF12 is mutated in anaplastic oligodendroglioma

scientific article published on 12 June 2015

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

scientific article

Tissue effect on genetic control of transcript isoform variation

scientific article

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

scientific article

Vitamin D Receptor 3′ Haplotypes Are Unequally Expressed in Primary Human Bone Cells and Associated With Increased Fracture Risk: The MrOS Study in Sweden and Hong Kong

scholarly article by Elin Grundberg et al published 19 March 2007 in Journal of Bone and Mineral Research

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

scientific article

List of works by Tomi Pastinen

An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits

Assessment of gene-by-sex interaction effect on bone mineral density

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.

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants ⬇️

Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro

DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis

Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants

Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism

Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

Large-scale association analysis identifies new risk loci for coronary artery disease

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Population genomics in a disease targeted primary cell model

Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation

Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer

TCF12 is mutated in anaplastic oligodendroglioma

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Tissue effect on genetic control of transcript isoform variation

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

Vitamin D Receptor 3′ Haplotypes Are Unequally Expressed in Primary Human Bone Cells and Associated With Increased Fracture Risk: The MrOS Study in Sweden and Hong Kong

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture