Lista de obras - Tuuli Lappalainen - Dominio Público Uruguay

Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies

artículo científico publicado en 2014

An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?

artículo científico publicado en 2021

Assessing allele-specific expression across multiple tissues from RNA-seq read data

artículo científico publicado en 2015

Associating cellular epigenetic models with human phenotypes

artículo científico publicado en 2017

Association of the fat mass and obesity-associated (FTO) gene variant (rs9939609) with dietary intake in the Finnish Diabetes Prevention Study

artículo científico publicado en 2012

Cell type-specific genetic regulation of gene expression across human tissues

artículo científico publicado en 2020

Concerted Genetic Function in Blood Traits

artículo científico publicado en 2016

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription

artículo científico publicado en 2013

Corrigendum: Landscape of X chromosome inactivation across human tissues

scientific article published in Nature

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

artículo científico publicado en 2016

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

artículo científico publicado en 2023

Distinct variants at LIN28B influence growth in height from birth to adulthood

artículo científico publicado en 2010

Distribution and medical impact of loss-of-function variants in the Finnish founder population

artículo científico publicado en 2014

Epistatic selection between coding and regulatory variation in human evolution and disease

artículo científico publicado en 2011

Evolutionary history of regulatory variation in human populations

scientific article published on 28 September 2010

From East or West? The genetic roots of Finns

artículo científico publicado en 2006

From trainee to tenure-track: ten tips

artículo científico publicado en 2015

From variant to function in human disease genetics

scholarly article

Functional genomics bridges the gap between quantitative genetics and molecular biology

artículo científico publicado en 2015

Gene age predicts the strength of purifying selection acting on gene expression variation in humans

artículo científico publicado en 2014

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

artículo científico publicado en 2014

Genetic interactions affecting human gene expression identified by variance association mapping

artículo científico publicado en 2014

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations.

artículo científico publicado en 2017

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

artículo científico publicado en 2019

Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe

artículo científico publicado en 2008

Genomic Analysis in the Age of Human Genome Sequencing

scientific article published on 01 March 2019

Genomic landscape of positive natural selection in Northern European populations

artículo científico publicado en 2009

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms

artículo científico publicado en 2014

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

artículo científico publicado en 2015

Human genomics. The human transcriptome across tissues and individuals

artículo científico publicado en 2015

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

artículo científico publicado en 2013

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

article

Insights into hominid evolution from the gorilla genome sequence

artículo científico publicado en 2012

Integrative annotation of variants from 1092 humans: application to cancer genomics

artículo científico publicado en 2013

Janus--a comprehensive tool investigating the two faces of transcription

artículo científico publicado en 2013

Landscape of X chromosome inactivation across human tissues

artículo científico publicado en 2017

Landscape of X chromosome inactivation across human tissues

Leveraging allelic imbalance to refine fine-mapping for eQTL studies

scientific article published on 13 December 2019

MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.

artículo científico publicado en 2017

Migration waves to the Baltic Sea region

artículo científico publicado en 2008

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

scientific article published on 20 August 2018

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

artículo científico publicado en 2013

Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis

artículo científico publicado en 2009

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs

artículo científico publicado en 2008

Preeclampsia does not share common risk alleles in 9p21 with coronary artery disease and type 2 diabetes

artículo científico publicado en 2016

Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change.

artículo científico publicado en 2017

Rare and common regulatory variation in population-scale sequenced human genomes

artículo científico publicado en 2011

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

scientific article published on 08 September 2016

Regional differences among the Finns: a Y-chromosomal perspective

artículo científico publicado en 2006

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

artículo científico publicado en 2013

Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

scientific article published on 12 September 2016

Sex-biased genetic effects on gene regulation in humans

artículo científico publicado en 2012

SnapShot: Discovering Genetic Regulatory Variants by QTL Analysis.

artículo científico publicado en 2017

Swedish population substructure revealed by genome-wide single nucleotide polymorphism data

artículo científico publicado en 2011

Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants

artículo científico publicado en 2014

The impact of genetically controlled splicing on exon inclusion and protein structure

artículo científico publicado en 2024

The impact of sex on gene expression across human tissues

artículo científico publicado en 2020

The landscape of genomic imprinting across diverse adult human tissues

artículo científico publicado en 2015

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

artículo científico publicado en 2015

Tools and best practices for data processing in allelic expression analysis

artículo científico publicado en 2015

Transcriptome and genome sequencing uncovers functional variation in humans

artículo científico publicado en 2013

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture

artículo científico publicado en 2014

Transcriptomic signatures across human tissues identify functional rare genetic variation

artículo científico publicado en 2020

Voices of biotech

artículo científico publicado en 2016

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

scientific article published on 14 October 2020

Lista de obras de Tuuli Lappalainen

Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies

An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?

Assessing allele-specific expression across multiple tissues from RNA-seq read data

Associating cellular epigenetic models with human phenotypes

Association of the fat mass and obesity-associated (FTO) gene variant (rs9939609) with dietary intake in the Finnish Diabetes Prevention Study

Cell type-specific genetic regulation of gene expression across human tissues

Concerted Genetic Function in Blood Traits

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription

Corrigendum: Landscape of X chromosome inactivation across human tissues

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

Distinct variants at LIN28B influence growth in height from birth to adulthood

Distribution and medical impact of loss-of-function variants in the Finnish founder population

Epistatic selection between coding and regulatory variation in human evolution and disease

Evolutionary history of regulatory variation in human populations

From East or West? The genetic roots of Finns

From trainee to tenure-track: ten tips

From variant to function in human disease genetics

Functional genomics bridges the gap between quantitative genetics and molecular biology

Gene age predicts the strength of purifying selection acting on gene expression variation in humans

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

Genetic interactions affecting human gene expression identified by variance association mapping

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations.

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe

Genomic Analysis in the Age of Human Genome Sequencing

Genomic landscape of positive natural selection in Northern European populations

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

Human genomics. The human transcriptome across tissues and individuals

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Insights into hominid evolution from the gorilla genome sequence

Integrative annotation of variants from 1092 humans: application to cancer genomics

Janus--a comprehensive tool investigating the two faces of transcription

Landscape of X chromosome inactivation across human tissues

Landscape of X chromosome inactivation across human tissues

Leveraging allelic imbalance to refine fine-mapping for eQTL studies

MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.

Migration waves to the Baltic Sea region

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs

Preeclampsia does not share common risk alleles in 9p21 with coronary artery disease and type 2 diabetes

Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change.

Rare and common regulatory variation in population-scale sequenced human genomes

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Regional differences among the Finns: a Y-chromosomal perspective

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

Sex-biased genetic effects on gene regulation in humans

SnapShot: Discovering Genetic Regulatory Variants by QTL Analysis.

Swedish population substructure revealed by genome-wide single nucleotide polymorphism data

Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants

The impact of genetically controlled splicing on exon inclusion and protein structure

The impact of sex on gene expression across human tissues

The landscape of genomic imprinting across diverse adult human tissues

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

Tools and best practices for data processing in allelic expression analysis

Transcriptome and genome sequencing uncovers functional variation in humans

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture

Transcriptomic signatures across human tissues identify functional rare genetic variation

Voices of biotech

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants