Aarno Palotie

ORCID: 0000-0002-2527-5874
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About
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Research Areas
  • Genetic Associations and Epidemiology
  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities
  • Migraine and Headache Studies
  • Bioinformatics and Genomic Networks
  • Traumatic Brain Injury and Neurovascular Disturbances
  • Nutrition, Genetics, and Disease
  • Neuroscience of respiration and sleep
  • Genetic Mapping and Diversity in Plants and Animals
  • Genetic and phenotypic traits in livestock
  • Epigenetics and DNA Methylation
  • Traumatic Brain Injury Research
  • Birth, Development, and Health
  • Lipoproteins and Cardiovascular Health
  • Diabetes, Cardiovascular Risks, and Lipoproteins
  • RNA Research and Splicing
  • Lipid metabolism and disorders
  • Trauma and Emergency Care Studies
  • Health, Environment, Cognitive Aging
  • RNA modifications and cancer
  • Metabolism and Genetic Disorders
  • Genetic factors in colorectal cancer
  • Cancer, Lipids, and Metabolism
  • BRCA gene mutations in cancer

University of Helsinki
2016-2025

Institute for Molecular Medicine Finland
2016-2025

Broad Institute
2016-2025

Massachusetts General Hospital
2016-2025

Finland University
2016-2025

Wellcome Sanger Institute
2013-2024

Helsinki University Hospital
2011-2024

Harvard University
2015-2024

Kuopio University Hospital
2014-2024

University of Eastern Finland
2014-2024

Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation DNA sequence changes. Here we describe aggregation analysis high-quality exome (protein-coding region) 60,706 individuals diverse ancestries generated as part Exome Aggregation Consortium (ExAC). This catalogue diversity contains an average one variant every eight bases exome, provides direct evidence presence widespread mutational recurrence. We have used this to calculate...

10.1038/nature19057 article EN cc-by Nature 2016-08-01

10.1038/nature09298 article EN Nature 2010-08-31
Shane McCarthy Sayantan Das Warren W. Kretzschmar Olivier Delaneau Andrew R. Wood and 95 more Alexander Teumer Hyun Min Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas J. Timpson Seppo Koskinen Scott Vrieze Laura J. Scott He Zhang Anubha Mahajan Jan H. Veldink Ulrike Peters Carlos N. Pato Cornelia M. van Duijn Christopher E. Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey C. Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad M. Brummett Fabio Busonero Harry Campbell Andrew T. Chan Sai Chen Emily Y. Chew Francis S. Collins Laura J. Corbin George Davey Smith George Dedoussis Marcus Dörr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross M. Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha A. Harrison Andrew T. Hattersley Oddgeir L. Holmen Kristian Hveem Matthias Kretzler James Lee Matt McGue Thomas Meitinger David Melzer Josine L. Min Karen L. Mohlke John B. Vincent Matthias Nauck Deborah A. Nickerson Aarno Palotie Michele T. Pato Nicola Pirastu Melvin G. McInnis J. Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P. Eline Slagboom Kerrin S. Small Timothy D. Spector Dwight Stambolian Marcus A. Tuke Jaakko Tuomilehto Leonard H. van den Berg Wouter van Rheenen Uwe Völker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew G. Sampson James F. Wilson Timothy M. Frayling Paul I. W. de Bakker Morris A. Swertz Steven A. McCarroll Charles Kooperberg Annelot M. Dekker David Altshuler Cristen J. Willer William G. Iacono Samuli Ripatti

10.1038/ng.3643 article EN Nature Genetics 2016-08-22

10.1038/nature13772 article EN Nature 2014-10-29
Veryan Codd Christopher P. Nelson Eva Albrecht Massimo Mangino Joris Deelen and 94 more Jessica L. Buxton Jouke‐Jan Hottenga Krista Fischer Tõnu Esko Ida Surakka Linda Broer Dale R. Nyholt Irene Mateo Leach Perttu Salo Sara Hägg Mary Matthews Jutta Palmen Giuseppe Danilo Norata Paul F. O’Reilly Danish Saleheen Najaf Amin Anthony J. Balmforth Marian Beekman Rudolf A. de Boer Stefan Böhringer Peter S. Braund Paul R. Burton Anton J Mde Craen Matthew Denniff Yanbin Dong Konstantinos Douroudis Dubinina Ev Johan G. Eriksson K. Garlaschelli Dehuang Guo Anna‐Liisa Hartikainen Anjali K. Henders Jeanine J. Houwing‐Duistermaat Laura Kananen Lennart C. Karssen Johannes Kettunen Norman Klopp Vasiliki Lagou Jin‐Moo Lee Pamela A. F. Madden Reedik Mägi Patrik K. E. Magnusson Satu Männistö Mark I. McCarthy Sarah E. Medland Evelin Mihailov Grant W. Montgomery Ben A. Oostra Aarno Palotie Annette Peters Helen Perlstein Pollard Anneli Pouta Inga Prokopenko Samuli Ripatti Veikko Salomaa H. Eka D. Suchiman Ana M. Valdes Niek Verweij Ana Viñuela Xiaoling Wang H‐Erich Wichmann Elisabeth Widén Gonneke Willemsen Margaret J. Wright Kai Xia Xiangjun Xiao Dirk J. van Veldhuisen Alberico L. Catapano Martin D. Tobin Alistair S. Hall Alexandra I. F. Blakemore Wiek H. van Gilst Haidong Zhu Jeanette Erdmann Muredach P. Reilly Sekar Kathiresan Heribert Schunkert Philippa J. Talmud Nancy L. Pedersen Markus Perola Willem H. Ouwehand Jaakko Kaprio Nicholas G. Martin Cornelia M. van Duijn Iiris Hovatta Christian Gieger Andres Metspalu Dorret I. Boomsma Marjo‐Riitta Järvelin P. Eline Slagboom John R. Thompson Tim D. Spector Pim van der Harst Nilesh J. Samani

10.1038/ng.2528 article EN Nature Genetics 2013-03-27
Raymond K. Walters Renato Polimanti Emma C. Johnson Jeanette N. McClintick Mark J. Adams and 95 more Amy Adkins Fazil Alıev Silviu‐Alin Bacanu Anthony Batzler Sarah Bertelsen Joanna M. Biernacka Tim B. Bigdeli Li‐Shiun Chen Toni‐Kim Clarke Yi‐Ling Chou Franziska Degenhardt Anna R. Docherty Alexis C. Edwards Pierre Fontanillas Jerome C. Foo Louis Fox Josef Frank Ina Giegling Scott D. Gordon Laura M. Hack Annette M. Hartmann Sarah M. Hartz Stefanie Heilmann‐Heimbach Stefan Herms Colin A. Hodgkinson Per Hoffmann Jouke‐Jan Hottenga Martin A. Kennedy Mervi Alanne-Kinnunen Bettina Konte Jari Lahti Marius Lahti‐Pulkkinen Dongbing Lai Lannie Ligthart Anu Loukola Brion S. Maher Hamdi Mbarek Andrew M. McIntosh Matthew B. McQueen Jacquelyn L. Meyers Yuri Milaneschi Teemu Palviainen John F. Pearson Roseann E. Peterson Samuli Ripatti Euijung Ryu Nancy L. Saccone Jessica E. Salvatore Sandra Sanchez‐Roige Melanie L. Schwandt Richard Sherva Fabian Streit Jana Strohmaier Nathaniel Thomas Jen‐Chyong Wang Bradley T. Webb Robbee Wedow Leah Wetherill Amanda G. Wills Jason D. Boardman Danfeng Chen Doo‐Sup Choi William Copeland Robert Culverhouse Norbert Dahmen Louisa Degenhardt Benjamin W. Domingue Sarah L. Elson Mark A. Frye Wolfgang Gäbel Caroline Hayward Marcus Ising Margaret A. Keyes Falk Kiefer John R. Kramer Samuel Kuperman Susanne Lucae Michael T. Lynskey Wolfgang Maier Karl Mann Satu Männistö Bertram Müller‐Myhsok Alison D. Murray John I. Nürnberger Aarno Palotie Ulrich W. Preuss Katri Räikkönen Maureen Reynolds Monika Ridinger Norbert Scherbaum Marc A. Schuckit Michael Soyka Jens Treutlein Stephanie H. Witt Norbert Wodarz

10.1038/s41593-018-0275-1 article EN Nature Neuroscience 2018-11-19
Tarjinder Singh Timothy Poterba David Curtis Huda Akil Mariam Al Eissa and 95 more Jack D. Barchas Nicholas Bass Tim B. Bigdeli Gerome Breen Evelyn J. Bromet P.F. Buckley William E. Bunney Jonas Bybjerg‐Grauholm William Byerley Sinéad B. Chapman Wei J. Chen Claire Churchhouse Nicholas Craddock Caroline Cusick Lynn E. DeLisi Sheila Dodge Michael Escamilla Saana Eskelinen Ayman H. Fanous Stephen V. Faraone Alessia Fiorentino Laurent C. Francioli Stacey Gabriel Diane Gage Sarah A. Gagliano Taliun Andrea Ganna Giulio Genovese David C. Glahn Jakob Grove Mei‐Hua Hall Eija Hämäläinen Henrike Heyne Matti Holi David M. Hougaard Daniel P. Howrigan Hailiang Huang Hai‐Gwo Hwu René S. Kahn Hyun Min Kang Konrad J. Karczewski George Kirov James A. Knowles Francis S. Lee Douglas S. Lehrer Francesco Lescai Dolores Malaspina Stephen R. Marder Steven A. McCarroll Andrew M. McIntosh Helena Medeiros Lili Milani Christopher P. Morley Derek W. Morris Preben Bo Mortensen R Myers Merete Nordentoft Niamh L. O’Brien Ana Maria Olivares Döst Öngür Willem H. Ouwehand Duncan S. Palmer Tiina Paunio Digby Quested Mark Hyman Rapaport Elliott Rees Brandi Rollins F. Kyle Satterstrom Alan F. Schatzberg Edward M. Scolnick Laura J. Scott Sally I. Sharp Pamela Sklar Jordan W. Smoller Janet L. Sobell Matthew Solomonson Eli A. Stahl Christine Stevens Jaana Suvisaari Grace Tiao Stanley J. Watson Nicholas A. Watts Douglas Blackwood Anders D. Børglum Bruce M. Cohen Aiden Corvin Tõnu Esko Nelson B. Freimer Stephen J. Glatt Christina M. Hultman Andrew McQuillin Aarno Palotie Carlos N. Pato Michele T. Pato Ann E. Pulver David St Clair

10.1038/s41586-022-04556-w article EN Nature 2022-04-08

Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk presence numbers neutral variants, even phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare as they have deleterious that present at higher frequencies well a substantial reduction variation. To explore potential Finnish founder population low-frequency (0.5–5%)...

10.1371/journal.pgen.1004494 article EN cc-by PLoS Genetics 2014-07-31
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