Tuuli Lappalainen

Tuuli Lappalainen

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Tuuli Lappalainen

Tuuli Lappalainen

Publications by authors named "Tuuli Lappalainen"

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51Publications

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Genomic Analysis in the Age of Human Genome Sequencing.

Cell 2019 Mar;177(1):70-84

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.02.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532068PMC
March 2019

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

Genome Res 2017 11 11;27(11):1872-1884. Epub 2017 Oct 11.

New York Genome Center, New York, New York 10013, USA.

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http://dx.doi.org/10.1101/gr.216747.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668944PMC
November 2017

SnapShot: Discovering Genetic Regulatory Variants by QTL Analysis.

Cell 2017 11;171(4):980-980.e1

New York Genome Center, 101 6th Avenue, New York, NY 10013, USA; Columbia University Department of Systems Biology, Irving Cancer Research Center, 1130 St. Nicholas Avenue, New York, NY 10032, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674173125
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http://dx.doi.org/10.1016/j.cell.2017.10.031DOI Listing
November 2017

Associating cellular epigenetic models with human phenotypes.

Nat Rev Genet 2017 07 30;18(7):441-451. Epub 2017 May 30.

Departments of Genetics, Medicine and Pediatrics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1038/nrg.2017.32DOI Listing
July 2017

Concerted Genetic Function in Blood Traits.

Cell 2016 11;167(5):1167-1169

New York Genome Center, New York, NY 10013, USA; Department of Systems Biology, Columbia University, New York, NY 10027, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.10.055DOI Listing
November 2016

Rare variant phasing and haplotypic expression from RNA sequencing with phASER.

Nat Commun 2016 09 8;7:12817. Epub 2016 Sep 8.

New York Genome Center, New York, NY, 10013, USA.

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http://dx.doi.org/10.1038/ncomms12817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025529PMC
September 2016

Functional genomics bridges the gap between quantitative genetics and molecular biology.

Genome Res 2015 Oct;25(10):1427-31

New York Genome Center, New York, New York 10013, USA; Department of Systems Biology, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/gr.190983.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579327PMC
October 2015

From trainee to tenure-track: ten tips.

Genome Biol 2015 Jun 24;16:132. Epub 2015 Jun 24.

New York Genome Center, 101 Avenue of the Americas, New York, NY, 10013, USA.

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http://dx.doi.org/10.1186/s13059-015-0691-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477486PMC
June 2015

Human genomics. The human transcriptome across tissues and individuals.

Science 2015 May;348(6235):660-5

Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain. Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain. Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Catalonia, Spain. Joint CRG-Barcelona Super Computing Center (BSC)-Institut de Recerca Biomedica (IRB) Program in Computational Biology, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1126/science.aaa0355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547472PMC
May 2015

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

Nat Genet 2015 Jan 1;47(1):88-91. Epub 2014 Dec 1.

1] Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. [2] Institute of Genetics and Genomics in Geneva, University of Geneva, Geneva, Switzerland. [3] Swiss Institute of Bioinformatics, Geneva, Switzerland.

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http://dx.doi.org/10.1038/ng.3162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643454PMC
January 2015

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

PLoS Genet 2015 Jan 29;11(1):e1004958. Epub 2015 Jan 29.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence in Genomic Medicine Research, KingAbdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1371/journal.pgen.1004958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310612PMC
January 2015

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

Am J Hum Genet 2014 Dec;95(6):660-74

Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, 1211 Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259975PMC
December 2014

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

PLoS Genet 2014 Jul 31;10(7):e1004494. Epub 2014 Jul 31.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117444PMC
July 2014

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

Bioinformatics 2014 Jan 18;30(2):165-71. Epub 2013 Nov 18.

Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne, Swiss Institute of Bioinformatics, 1015, Lausanne, Switzerland, Department of Genetic Medicine and Development, University of Geneva Medical School, Institute of Genetics and Genomics in Geneva, University of Geneva, 1211, Geneva, Switzerland and Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, 1011, Lausanne, Switzerland.

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http://dx.doi.org/10.1093/bioinformatics/btt667DOI Listing
January 2014

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

Nat Biotechnol 2013 Nov 15;31(11):1015-22. Epub 2013 Sep 15.

1] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. [2] Netherlands Bioinformatics Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/nbt.2702DOI Listing
November 2013

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

Bioinformatics 2013 Jul 24;29(13):1600-6. Epub 2013 Apr 24.

Institute for Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btt185DOI Listing
July 2013

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

Elife 2013 Jun 4;2:e00523. Epub 2013 Jun 4.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, Geneva, Switzerland [corrected]; Swiss Institute of Bioinformatics, Geneva, Switzerland.

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http://dx.doi.org/10.7554/eLife.00523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673336PMC
June 2013

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

Am J Hum Genet 2011 Sep;89(3):459-63

Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland.

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http://dx.doi.org/10.1016/j.ajhg.2011.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169828PMC
September 2011

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

PLoS Genet 2011 Jul 21;7(7):e1002144. Epub 2011 Jul 21.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1371/journal.pgen.1002144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141000PMC
July 2011

Evolutionary history of regulatory variation in human populations.

Hum Mol Genet 2010 Oct 28;19(R2):R197-203. Epub 2010 Sep 28.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddq406DOI Listing
October 2010

Genomic landscape of positive natural selection in Northern European populations.

Eur J Hum Genet 2010 Apr 21;18(4):471-8. Epub 2009 Oct 21.

Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2009.184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987258PMC
April 2010

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

Duodecim 2006 ;122(1):63-8

Turun yliopiston biolääketieteen laitos, lääketieteellinen genetiikka, Turku.

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August 2006