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List of works by Tuuli Lappalainen

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

scientific article

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

scientific article published on 27 July 2021

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

scientific article

Associating cellular epigenetic models with human phenotypes

scientific article (publication date: 30 May 2017)

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

scientific article published on 23 January 2012

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

scientific article published on 01 September 2020

Concerted Genetic Function in Blood Traits

scientific article published on November 2016

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

scientific article

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

scientific article published on 25 August 2016

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

scientific article published on 04 May 2023

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

scientific article

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

scientific article

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

scientific article

Evolutionary history of regulatory variation in human populations

scientific article published on 28 September 2010

From trainee to tenure-track: ten tips

scientific article published on 24 June 2015

From variant to function in human disease genetics

scholarly article

Functional genomics bridges the gap between quantitative genetics and molecular biology

scientific article

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

scientific article

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

scientific article

Genetic interactions affecting human gene expression identified by variance association mapping

scientific article

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

scientific article

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

scientific article published on 10 October 2019

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

scientific article (publication date: 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

scientific article

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

scientific article published on 30 January 2014

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

scientific article

Human genomics. The human transcriptome across tissues and individuals

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Landscape of X chromosome inactivation across human tissues

scientific article published on October 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.

scientific article

Migration waves to the Baltic Sea region

scientific article

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

scientific article published on 4 June 2013

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

scientific article

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

scientific article

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

scientific article published on 25 April 2016

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

scientific article published on 11 October 2017

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

scientific article

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

scientific article (publication date: 19 July 2006)

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

scientific article published on 15 September 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

scientific article

SnapShot: Discovering Genetic Regulatory Variants by QTL Analysis.

scientific article published in November 2017

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

scientific article published in 2011

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

scientific article published in 2014

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

scientific article published in 2024

The impact of sex on gene expression across human tissues

scientific article

The landscape of genomic imprinting across diverse adult human tissues

scientific article published on 7 May 2015

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

scientific article published on 29 January 2015

Tools and best practices for data processing in allelic expression analysis

scientific article published on 17 September 2015

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture

scientific article

Transcriptomic signatures across human tissues identify functional rare genetic variation

scientific article

Voices of biotech

scientific article published on March 2016

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

scientific article published on 14 October 2020

[From East or West? The genetic roots of Finns]

scientific article published on 01 January 2006

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