Tuuli Lappalainen’s lab studies functional genetic variation in human populations. It is particularly interested in regulatory variation affecting the transcriptome, as well as cellular mechanisms underlying genetic associations to disease. The lab integrates computational analysis of genomic and transcriptomic data with population genetic and experimental analysis.
The lab is also affiliated with the Department of Systems Biology at Columbia University.
Tuuli Lappalainen, PhD, is a Core Member and Assistant Investigator at the New York Genome Center. She holds a joint appointment as Assistant Professor in the Department of Systems Biology at Columbia University.
Her research focuses on functional genetic variation in human populations and its contribution to traits and diseases. Dr. Lappalainen has pioneered the integration of large-scale genome and transcriptome sequencing data to understand how genetic variation affects gene expression, providing insight to cellular mechanisms underlying genetic risk for disease. The work of her research group at NYGC links computational and population genomics to experimental molecular biology.
Dr. Lappalainen received her PhD in Genetics from the University of Helsinki, Finland in 2009, followed by postdoctoral research at the University of Geneva, Switzerland and Stanford University. She has made important contributions to several international research consortia in human genomics, including the 1000 Genomes Project and the Genotype Tissue Expression (GTEx) Project, and led the RNA-sequencing work of the Geuvadis Consortium. GenomeWeb profiled her in their 2013 feature on promising young investigators.
Modified penetrance of coding variants by cis-regulatory variation shapes human traits.
Nature Genetics. 2018 Aug. 20.
SnapShot: Discovering Genetic Regulatory Variants by QTL Analysis.
Brandt M, Lappalainen T.
Cell. 2017 Nov. 2.
Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change.
Mohammadi P, Castel SE, Brown AA, Lappalainen T.
Genome Research. 2017 Oct. 11.
Landscape of X chromosome inactivation across human tissues.
Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG.
Nature. 2017 Oct. 11.
Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations.
Kim-Hellmuth S, Bechheim M, Puetz B, Mohammadi P, Nedelec Y, Giangreco N, Becker J, Kaiser V, Fricker N, Beier E, Boor P, Castel S, Noethen MM, Barreiro LB, Pickrell JK, Mueller-Myhsok, Lappalainen T, Schumacher J, Hornung, V.
Nature Communications. 2017 August 16.
Associating cellular epigenetic models with human phenotypes.
Lappalainen T, Greally JM.
Nature Reviews Genetics. 2017 May 30.
- Modified penetrance of coding variants by cis-regulatory variation shapes human traits.