Tuuli Lappalainen

Platform Director: Genomics, KTH Royal Institute of Technology

Key publications

Morris JA, Daniloski Z, Domingo J, Barry T, Ziosi M, Glinos DA, Hao S, Mimitou EP, Smibert P, Roeder K, Katsevich E, Lappalainen T#, Sanjana NE# (2023) Discovery of target genes and pathways of blood trait loci using pooled CRISPR screens and single cell RNA sequencing. Science 380(6646):eadh7699, doi: 10.1126/science.adh7699

Domingo J, Minaeva M, Morris JA, Ziosi M, Sanjana NE, Lappalainen T (2024) Non-linear transcriptional responses to gradual modulation of transcription factor dosage. bioRxiv; doi: https://doi.org/10.1101/2024.03.01.582837

Glinos DA*, Garborcauskas G*, Hoffman P, Ehsan N, Jiang L, Gokden A, Dai X, Aguet F, Brown KL, Garimella K, Bowers T, Costello M, Ardlie K, Jian R, Tucker NR, Ellinor PT, Harrington ED, Tang H, Snyder M, Juul S, Mohammadi P, MacArthur D, Lappalainen T#, Cummings B# (2022). Transcriptome variation in human tissues revealed by long-read sequencing. Nature 608(7922):353-359.

Kim-Hellmuth S, Aguet F, Oliva M, Munoz-Aguirre M, Wucher V, Kasela S, Castel SE, Hamel A, Vinuela A, Roberts AL, Mangul S, Wen X, Wang G, Barbeira A, Garrido-Martin D, Nadel B, Zou Y, Bonazzola R, Quan J, Brown A, Martinez-Perez A, Soria JM, The GTEx Consortium, Getz G, Dermitzakis E, Small KS, Stephens M, Xi HS, Im HK, Guigo R, Segre A, Stranger B, Ardlie K, Lappalainen T# (2019) Cell type specific genetic regulation of gene expression across human tissues. Science 369(6509):eaaz8528.

The GTEx Consortium (2019) The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369(6509):1318-1330

Lappalainen T, Li YA, Ramachandran S, Gusev A (2024). Genetic and molecular architecture of complex traits. Cell 187(5):1059-1075

Tuuli Lappalainen

We study functional genetic variation in human populations, and the mechanisms how it affects human traits and disease. Our work combines computational genomics, human population genetics approaches, and high-throughput experimental work. We focus on studying genetic effects on transcriptome and other molecular traits, which has further implications on the cellular and individual level. While some of our projects are closely related to specific diseases, our overall goal is to uncover general rules of the genomic sources of variation in human traits from a systems genetics perspective. The lab consists of two teams, based at SciLifeLab and KTH Royal Institute of Technology and at the New York Genome Center.

Group Members:

Philipp Rentzsch
Emma Inns
Sanna Gudmundsson Sulagna Dasgupta
Jasper Panten
Leah Rosen
Josie Gleeson
Kathryn Bedrosian (NYGC)
Scott Adamson (NYGC)
Marliette Matos (NYGC)
Nathan Andrews (NYGC)
Samuel Ghatan (NYGC)
Danny Simpson (NYGC)
Omar Ahmed (NYGC)
Marielle Bond (NYGC)

Last updated: 2025-01-13

Content Responsible: David Gotthold(david.gotthold@scilifelab.se)