Tuuli Lappalainen

Former Postdoctoral Researcher

After getting my PhD from the University of Helsinki (2009, human population genetics) I joined the lab in October 2009 in order to study population and evolutionary genetics of regulatory variation in humans. I’m interested in how population history and different evolutionary processes have given rise to the current spectrum of functional variation in the human genome and further to phenotypic diversity. I'm involved in a number of projects: I'm the leader of the analysis group of the RNA sequencing work package of the Geuvadis Project, and a member of the analysis group of the GTEex and 1000 Genomes projects.


Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen T, Mailund T, Marques-Bonet T, McCarthy S, Montgomery SH, Schwalie PC, Tang YA, Ward MC, Xue Y, Yngvadottir B, Alkan C, Andersen LN, Ayub Q, Ball EV, Beal K, Bradley BJ, Chen Y, Clee CM, Fitzgerald S, Graves TA, Gu Y, Heath P, Heger A, Karakoc E, Kolb-Kokocinski A, Laird GK, Lunter G, Meader S, Mort M, Mullikin JC, Munch K, O'Connor TD, Phillips AD, Prado-Martinez J, Rogers AS, Sajjadian S, Schmidt D, Shaw K, Simpson JT, Stenson PD, Turner DJ, Vigilant L, Vilella AJ, Whitener W, Zhu B, Cooper DN, de Jong P, Dermitzakis ET, Eichler EE, Flicek P, Goldman N, Mundy NI, Ning Z, Odom DT, Ponting CP, Quail MA, Ryder OA, Searle SM, Warren WC, Wilson RK, Schierup MH, Rogers J, Tyler-Smith C, Durbin R. (2012) Insights into hominid evolution from the gorilla genome sequence. Nature 483:169-75.

Lappalainen T, Montgomery SB, Nica AC, Dermitzakis ET (2011) Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease. American Journal of Human Genetics 89: 459-463.

Montgomery SB, Lappalainen T, Gutierrez-Arcelus M, Dermitzakis ET (2011) Rare and common regulatory variation in population-scale sequenced human genomes. Plos Genetics 7:e1002144.

Salmela E, Lappalainen T, Liu J, Sistonen P, Andersen PM, Schreiber S, Savontaus ML, Czene K, Lahermo P, Hall P, Kere J (2011) Swedish population substructure revealed by genome-wide single nucleotide polymorphism data. PLoS One 6:e16747.

Lappalainen T, Dermitzakis ET (2010) Evolutionary history of regulatory variation in human populations. Hum Mol Genet 19:R197-203. Review.

Widén E, Ripatti S, Cousminer DL, Surakka I, Lappalainen T, Järvelin M-R, Eriksson JG, Raitakari O, , Salomaa V, Sovio U, Hartikainen A-L, Pouta A, McCarthy MI, Osmond C, Kajantie E, Lehtimäki T, Viikari J, Kähönen M, Tyler-Smith C, Freimer N, Hirschhorn JN, Peltonen L, Palotie A (2010) Distinct Variants at LIN28B Influence Height Growth from Birth to Adulthood. American Journal of Human Genetics, 86:773-82

Lappalainen T, Salmela E, Andersen PM, Dahlman-Wright K, Sistonen P, Savontaus M-L, Schreiber S, Lahermo P, Kere J (2010) Genomic landscape of positive natural selection in Northern European populations. European Journal of Human Genetics 18:471-8.

Salmela E, Lappalainen T (equal contribution), Fransson I, Andersen P, Dahlman-Wright K, Fiebig A, Sistonen P, Savontaus M-L, Kere J, Lahermo P (2008) Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS ONE, 3:e3519.

Lappalainen T, Hannelius U, Salmela E, von Döbeln U, Lindgren C, Huoponen K, Savontaus M-L, Kere J, Lahermo P (2009) Population structure in contemporary Sweden – A Y-chromosomal and mitochondrial DNA analysis. Annals of Human Genetics, 73:61-73.

Hannelius U, Salmela E, Lappalainen T, Guillet G, Lindgren CM, von Döbeln U, Lahermo P, Kere J (2008) Population substructure in Finland and Sweden revealed by unlinked autosomal SNPs. BCM Genetics 19:54.

Lappalainen T, Laitinen V, Salmela E, Andersen P, Huoponen K, Savontaus M-L, Lahermo P (2008) Migration Waves to the Baltic Sea Region. Annals of Human Genetics 72:337–348.

Lappalainen T, Koivumäki S (equal contribution), Sistonen P, Salmela E, Huoponen K, Savontaus M-L, Lahermo P (2006) Regional differences among the Finns: A Y-chromosomal perspective. Gene 19;376:207-15

Huoponen K, Lappalainen T, Savontaus M-L (2006): Idästä vai lännestä: Suomalaisten geneettiset sukujuuret (From east or west: genetic roots of the Finns). Duodecim 122(1);63-8