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Tune H. Pers

ORCID: 0000-0003-0207-4831
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A5069069657
Research Areas
  • Genetic Associations and Epidemiology
  • Adipose Tissue and Metabolism
  • Regulation of Appetite and Obesity
  • Nutrition, Genetics, and Disease
  • Bioinformatics and Genomic Networks
  • Genetics and Neurodevelopmental Disorders
  • Single-cell and spatial transcriptomics
  • Genetic Mapping and Diversity in Plants and Animals
  • Epigenetics and DNA Methylation
  • Adipokines, Inflammation, and Metabolic Diseases
  • RNA modifications and cancer
  • Diet and metabolism studies
  • Migraine and Headache Studies
  • Pancreatic function and diabetes
  • Genetic and phenotypic traits in livestock
  • Genomics and Rare Diseases
  • Genetic factors in colorectal cancer
  • Genomic variations and chromosomal abnormalities
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Liver Disease Diagnosis and Treatment
  • Health, Environment, Cognitive Aging
  • interferon and immune responses
  • Birth, Development, and Health
  • Gene expression and cancer classification
  • Biochemical Analysis and Sensing Techniques

Novo Nordisk Foundation
 2016-2025

University of Copenhagen
 2016-2025

Broad Institute
 2013-2024

Foundation Center
 2019-2024

Novo Nordisk (United States)
 2023-2024

Novo Nordisk Foundation Center for Basic Metabolic Research
 2019-2021

Statens Serum Institut
 2015-2021

Boston University
 2015-2021

Boston Children's Hospital
 2013-2020

Technical University of Denmark
 2009-2017

 Biological insights from 108 schizophrenia-associated genetic loci
OPENALEX - Publications 
Stephan Ripke Benjamin M. Neale Aiden Corvin James Walters Kai-How Farh and 95 more Peter Holmans Phil Lee Brendan Bulik‐Sullivan David Collier Hailiang Huang Tune H. Pers Ingrid Agartz Esben Agerbo Margot Albus Madeline Alexander Farooq Amin Silviu‐Alin Bacanu Martin Begemann Richard A. Belliveau Judit Bene Sarah E. Bergen Elizabeth Bevilacqua Tim B. Bigdeli Donald W. Black Richard Bruggeman Nancy G. Buccola Randy L. Buckner William Byerley Wiepke Cahn Guiqing Cai Dominique Campion Rita M. Cantor Vaughan J. Carr Noa Carrera Stanley V. Catts Kimberly D. Chambert Raymond Chan Ronald Y.L. Chen Eric Chen Wei Cheng Eric Cheung Siow Ann Chong C. Robert Cloninger David Cohen Nadine Cohen Paul Cormican Nick Craddock James J. Crowley David Curtis Michael Davidson Kenneth L. Davis Franziska Degenhardt Jurgen Del‐Favero Ditte Demontis Dimitris Dikeos Timothy G. Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Naser Durmishi Peter Eichhammer Johan G. Eriksson Valentina Escott‐Price Laurent Essioux Ayman H. Fanous Martilias S. Farrell Josef Frank Lude Franke Robert Freedman Nelson B. Freimer Marion Friedl Joseph I. Friedman Menachem Fromer Giulio Genovese Lyudmila Georgieva Ina Giegling Paola Giusti‐Rodríguez Stephanie Godard Jacqueline I. Goldstein В. Е. Голимбет Srihari Gopal Jacob Gratten Lieuwe de Haan Christian Hammer Marian L. Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M. Hartmann Frans Henskens Stefan Herms Joel N. Hirschhorn Per Hoffmann Andrea Hofman Mads V. Hollegaard David M. Hougaard Masashi Ikeda Inge Joa

10.1038/nature13595 article EN Nature 2014-07-01
 Genome-wide association study identifies 74 loci associated with educational attainment
OPENALEX - Publications 
Aysu Okbay Jonathan Beauchamp Mark Alan Fontana James J. Lee Tune H. Pers and 95 more Cornelius A. Rietveld Patrick Turley Guo‐Bo Chen Valur Emilsson S. Fleur W. Meddens Sven Oskarsson Joseph K. Pickrell Kevin Thom Pascal Timshel Ronald de Vlaming Abdel Abdellaoui Tarunveer S. Ahluwalia Jonas Bacelis Clemens Baumbach Gyða Björnsdóttir J Brandsma Maria Pina Concas Jaime Derringer Nicholas A. Furlotte Tessel E. Galesloot Giorgia Girotto Richa Gupta Leanne M. Hall Sarah E. Harris Edith Hofer Momoko Horikoshi Jennifer E. Huffman Kadri Kaasik Ioanna Panagiota Kalafati Robert Karlsson Augustine Kong Jari Lahti Sven J. van der Lee C. deLeeuw Penelope A. Lind Karl‐Oskar Lindgren Tian Liu Massimo Mangino Jonathan Marten Evelin Mihailov Michael B. Miller Peter J. van der Most Christopher Oldmeadow Antony Payton Natalia Pervjakova Wouter J. Peyrot Yong Qian Olli Raitakari Rico Rueedi Erika Salvi Börge Schmidt Katharina E. Schraut Jianxin Shi Albert V. Smith Raymond A. Poot Beaté St Pourcain Alexander Teumer Gudmar Thorleifsson Niek Verweij Dragana Vuckovic Juergen Wellmann Harm-Jan Westra Jingyun Yang Wei Zhao Zhihong Zhu Behrooz Z. Alizadeh Najaf Amin Andrew Bakshi Sebastian E. Baumeister Ginevra Biino Klaus Bønnelykke Patricia A. Boyle Harry Campbell Francesco P. Cappuccio Gail Davies Jan-Emmanuel De Neve Panos Deloukas Ilja Demuth Jun Ding Peter Eibich Lewin Eisele Niina Eklund David M. Evans Jessica D. Faul Mary F. Feitosa Andreas J. Forstner Ilaria Gandin Bjarni Gunnarsson Bjarni V. Halldórsson Tamara B. Harris Andrew C. Heath Lynne J. Hocking Elizabeth G. Holliday Georg Homuth Michael A. Horan

10.1038/nature17671 article EN Nature 2016-05-10
 Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
OPENALEX - Publications 
Bjarni J. Vilhjálmsson Jian Yang Hilary K. Finucane Alexander Gusev Sara Lindström and 95 more Stephan Ripke Giulio Genovese Po−Ru Loh Gaurav Bhatia Ron Do Tristan J. Hayeck Hong‐Hee Won Sekar Kathiresan Michele T. Pato Carlos N. Pato Rulla M. Tamimi Eli A. Stahl Noah Zaitlen Bogdan Paşaniuc Gillian M. Belbin Eimear E. Kenny Mikkel Heide Schierup Philip L. De Jager Nikolaos A. Patsopoulos Steve McCarroll Mark J. Daly Shaun Purcell Daniel I. Chasman Benjamin M. Neale Michael E. Goddard Peter M. Visscher Peter Kraft Hon‐Cheong So Alkes L. Price Stephan Ripke Benjamin M. Neale Aiden Corvin James Walters Kai-How Farh Peter Holmans Phil Lee Brendan Bulik‐Sullivan David Collier Hailiang Huang Tune H. Pers Ingrid Agartz Esben Agerbo Margot Albus Madeline Alexander Farooq Amin Silviu‐Alin Bacanu Martin Begemann Richard A. Belliveau Judit Bene Sarah E. Bergen Elizabeth Bevilacqua Tim B. Bigdeli Donald W. Black Richard Bruggeman Nancy G. Buccola Randy L. Buckner William Byerley Wiepke Cahn Guiqing Cai Dominique Campion Rita M. Cantor Vaughan J. Carr Noa Carrera Stanley V. Catts Kimberly D. Chambert Raymond Chan Ronald Y.L. Chen Eric Chen Wei Cheng Eric F.C. Cheung Siow Ann Chong C. Robert Cloninger David Cohen Nadine Cohen Paul Cormican Nick Craddock James J. Crowley David Curtis Michael Davidson Kenneth L. Davis Franziska Degenhardt Jurgen Del‐Favero Lynn E. DeLisi Ditte Demontis Dimitris Dikeos Timothy G. Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Naser Durmishi Peter Eichhammer Johan G. Eriksson Valentina Escott‐Price

10.1016/j.ajhg.2015.09.001 article EN publisher-specific-oa The American Journal of Human Genetics 2015-10-01
 Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
OPENALEX - Publications 
Nikolaos A. Patsopoulos Sergio E. Baranzini Adam Santaniello Parisa Shoostari Chris Cotsapas and 95 more Garrett Wong Ashley Beecham Tojo James Joseph M. Replogle Ioannis S. Vlachos Cristin McCabe Tune H. Pers Aaron Brandes Charles C. White Brendan T Keenan Maria Cimpean Phoebe A. Winn Ioannis-Pavlos Panteliadis Allison Robbins Till F. M. Andlauer Onigiusz Zarzycki Bénédicte Dubois An Goris Helle Bach Søndergaard Finn Sellebjerg Per Soelberg Sorensen Henrik Ullum Lise Wegner Thørner Janna Saarela Isabelle Cournu‐Rebeix Vincent Damotte Bertrand Fontaine Léna Guillot‐Noël Mark Lathrop Sandra Vukusic Achim Berthele Viola Pongratz Dorothea Buck Christiane Gasperi Christiane Graetz Verena Grummel Bernhard Hemmer Muni Hoshi Benjamin Knier Thomas Korn Christina M. Lill Felix Luessi Mark Mühlau Frauke Zipp Efthimios Dardiotis Cristina Agliardi Antonio Amoroso Nadia Barizzone Maria Donata Benedetti Luisa Bernardinelli Paola Cavalla Ferdinando Clarelli Gıancarlo Comı Daniele Cusi Federica Esposito Laura Ferrè Daniela Galimberti Clara Guaschino Maurizio Leone Vittorio Martinelli Lucia Moiola Marco Salvetti Melissa Sorosina Domizia Vecchio Andrea Zauli Silvia Santoro Nicasio Mancini Miriam Zuccalà Julia Mescheriakova Cornelia M. van Duijn Steffan D. Bos Elisabeth Gulowsen Celius Anne Spurkland Manuel Comabella Xavier Montalbán Lars Alfredsson Izaura Lima Bomfim David Gómez-Cabrero Jan Hillert Maja Jagodic Magdalena Lindén Fredrik Piehl Ilijas Jelčić Roland Martinꝉ Mirela Sospedra Amie Baker Maria Ban Clive Hawkins Pirro G. Hysi Seema Kalra Fredrik Karpe Jyoti Khadake Geneviève Lachance Paul Molyneux Matthew Neville

We analyzed genetic data of 47,429 multiple sclerosis (MS) and 68,374 control subjects established a reference map the architecture MS that includes 200 autosomal susceptibility variants outside major histocompatibility complex (MHC), one chromosome X variant, 32 within extended MHC. used an ensemble methods to prioritize 551 putative genes implicate innate adaptive pathways distributed across cellular components immune system. Using expression profiles from purified human microglia, we...

10.1126/science.aav7188 article EN Science 2019-09-26
 Biological interpretation of genome-wide association studies using predicted gene functions
OPENALEX - Publications 
Tune H. Pers Juha Karjalainen Yingleong Chan Harm-Jan Westra Andrew R. Wood and 12 more Jian Yang Julian C. Lui Sailaja Vedantam Stefan Gustafsson Tõnu Esko Timothy M. Frayling Elizabeth K. Speliotes Michael Boehnke Soumya Raychaudhuri Rudolf S.N. Fehrmann Joel N. Hirschhorn Lude Franke

The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize most likely causal at associated loci, highlight enriched identify tissues/cell types where loci are highly expressed. DEPICT not limited with established prioritizes relevant sets many phenotypes.

10.1038/ncomms6890 article EN cc-by Nature Communications 2015-01-19
 A molecular census of arcuate hypothalamus and median eminence cell types
OPENALEX - Publications 
John N. Campbell Evan Z. Macosko Henning Fenselau Tune H. Pers Anna Lyubetskaya and 8 more Danielle Tenen Melissa Goldman Anne M.J. Verstegen Jon M. Resch Steven A. McCarroll Evan D. Rosen Bradford B. Lowell Linus Tsai

10.1038/nn.4495 article EN Nature Neuroscience 2017-02-06
 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
OPENALEX - Publications 
Robert A. Scott Laura J. Scott Reedik Mägi Letizia Marullo Kyle J. Gaulton and 95 more Marika Kaakinen Natalia Pervjakova Tune H. Pers Andrew D. Johnson John D. Eicher Anne Jackson Teresa Ferreira Yeji Lee Clement Ma Valgerður Steinthórsdóttir Guðmar Þorleifsson Lu Qi Natalie R. van Zuydam Anubha Mahajan Han Chen Peter Almgren Benjamin F. Voight Harald Grallert Martina Müller‐Nurasyid Janina S. Ried Nigel W. Rayner Neil Robertson Lennart C. Karssen Jin‐Moo Lee Sara M. Willems Christian Fuchsberger Phoenix Kwan Tanya M. Teslovich Pritam Chanda Man Li Yingchang Lu Christian Dina Dorothée Thuillier Loïc Yengo Longda Jiang Thomas Sparsø Hans A. Kestler Himanshu Chheda Lewin Eisele Stefan Gustafsson Mattias Frånberg Rona J. Strawbridge Rafn Benediktsson Ástráður B. Hreiðarsson Augustine Kong Gunnar Sigurðsson Nicola D. Kerrison Jian’an Luan Liming Liang Thomas Meitinger Michael Roden Barbara Thorand Tõnu Esko Evelin Mihailov Caroline S. Fox Yongmei Liu Denis Rybin Bo Isomaa Valeriya Lyssenko Jaakko Tuomilehto David Couper James S. Pankow Niels Grarup Henri Theil Marit E. Jørgensen Torben Jørgensen Allan Linneberg Marilyn C. Cornelis Rob M. van Dam Sarah Hunt Peter Kraft Qi Sun Sarah Edkins Katharine R. Owen John R. B. Perry Andrew R. Wood Eleftheria Zeggini Juan Tajes-Fernandes Gonçalo R. Abecasis Lori L. Bonnycastle Peter S. Chines Heather M. Stringham Heikki A. Koistinen Leena Kinnunen Bengt Sennblad Hae‐Won Uh Markus M. Nöthen Sonali Pechlivanis Damiano Baldassarre Karl Gertow Steve E. Humphries Elena Tremoli Norman Klopp Julia Meyer Gerald Steinbach

To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects European ancestry after imputation using 1000 Genomes multiethnic reference panel. Promising signals were followed up in additional sets (of 14,545 or 7,397 38,994 71,604 subjects). We identified 13 novel T2D-associated loci (P < 5 × 10-8), including variants near GLP2R, GIP, HLA-DQA1...

10.2337/db16-1253 article EN Diabetes 2017-05-31
 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
OPENALEX - Publications 
David Ellinghaus Luke Jostins Sarah L. Spain Adrián Cortés Jörn Bethune and 40 more Buhm Han Yu Rang Park Soumya Raychaudhuri Jennie G. Pouget Matthias Hübenthal Trine Folseraas Yunpeng Wang Tõnu Esko Andres Metspalu Harm-Jan Westra Lude Franke Tune H. Pers Rinse K. Weersma Valerie Collij Mauro D’Amato Jonas Halfvarson Anders Boeck Jensen Wolfgang Lieb Franziska Degenhardt Andreas J. Forstner Andrea Hofmann Stefan Schreiber Ulrich Mrowietz Brian D. Juran Konstantinos N. Lazaridis Søren Brunak Anders M. Dale Richard C. Trembath Stephan Weidinger Michael Weichenthal Eva Ellinghaus James T. Elder Juliet N. Barker Ole A. Andreassen Dermot McGovern Tom H. Karlsen Jeffrey C. Barrett Miles Parkes Matthew A. Brown André Franke

10.1038/ng.3528 article EN Nature Genetics 2016-03-14
 Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
OPENALEX - Publications 
Alexander Gusev Sang Lee Gosia Trynka Hilary K. Finucane Bjarni J. Vilhjálmsson and 95 more Han Xu Chongzhi Zang Stephan Ripke Brendan Bulik‐Sullivan Eli A. Stahl Anna K. Kähler Christina M. Hultman Shaun Purcell Steven A. McCarroll Mark J. Daly Bogdan Paşaniuc Patrick F. Sullivan Benjamin M. Neale Naomi R. Wray Soumya Raychaudhuri Alkes L. Price Stephan Ripke Benjamin M. Neale Aiden Corvin James Walters Kai-How Farh Peter Holmans Phil Lee Brendan Bulik‐Sullivan David Collier Hailiang Huang Tune H. Pers Ingrid Agartz Esben Agerbo Margot Albus Madeline Alexander Farooq Amin Silviu‐Alin Bacanu Martin Begemann Richard A. Belliveau Judit Bene Sarah E. Bergen Elizabeth Bevilacqua Tim B. Bigdeli Donald W. Black Anders D. Børglum Richard Bruggeman Nancy G. Buccola Randy L. Buckner William Byerley Wiepke Cahn Guiqing Cai Dominique Campion Rita M. Cantor Vaughan J. Carr Noa Carrera Stanley V. Catts Kimberly D. Chambert Raymond Chan Ronald Y.L. Chen Eric Chen Wei Cheng Eric Cheung Siow Ann Chong C. Robert Cloninger David Cohen Nadine Cohen Paul Cormican Nick Craddock James J. Crowley David Curtis Michael H. Davidson Kenneth L. Davis Franziska Degenhardt Jurgen Del‐Favero Lynn E. DeLisi Ditte Demontis Dimitris Dikeos Timothy G. Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Naser Durmishi Peter Eichhammer Johan G. Eriksson Valentina Escott‐Price Laurent Essioux Ayman H. Fanous Martilias S. Farrell Josef Frank Lude Franke Robert Freedman Nelson B. Freimer Marion Friedl Joseph I. Friedman Menachem Fromer Giulio Genovese Lyudmila Georgieva

10.1016/j.ajhg.2014.10.004 article EN publisher-specific-oa The American Journal of Human Genetics 2014-11-01
 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
OPENALEX - Publications 
John R. B. Perry Felix R. Day Cathy E. Elks Patrick Sulem Deborah J. Thompson and 95 more Teresa Ferreira Chunyan He Daniel I. Chasman Tõnu Esko Guðmar Þorleifsson Eva Albrecht Wei Ang Tanguy Corre Diana L. Cousminer Bjarke Feenstra Nora Franceschini Andrea Ganna Andrew D. Johnson Sanela Kjellqvist Kathryn L. Lunetta George McMahon Ilja M. Nolte Lavinia Paternoster Eleonora Porcu Albert V. Smith Lisette Stolk Alexander Teumer Natalia Tšernikova Emmi Tikkanen Sheila Ulivi Erin K. Wagner Najaf Amin Laura J. Bierut Enda M. Byrne Jouke‐Jan Hottenga Daniel L. Koller Massimo Mangino Tune H. Pers Laura M. Yerges-Armstrong Jing Hua Zhao Irene L. Andrulis Hoda Anton‐Culver Femke Atsma Stefania Bandinelli Matthias W. Beckmann Javier Benı́tez Carl Blomqvist Stig E. Bojesen Manjeet K. Bolla Bernardo Bonanni Hiltrud Brauch Hermann Brenner Julie E. Buring Jenny Chang‐Claude Stephen J. Chanock Jinhui Chen Georgia Chenevix‐Trench J. Margriet Collée Fergus J. Couch David Couper Andrea D. Coviello Angela Cox Kamila Czene Pio D’Adamo George Davey Smith Immaculata De Vivo Ellen W. Demerath Joe Dennis Peter Devilee Aida Karina Dieffenbach Alison M. Dunning Guðný Eiríksdóttir Johan G. Eriksson Peter A. Fasching Luigi Ferrucci Dieter Flesch‐Janys Henrik Flyger Tatiana Foroud Lude Franke Melissa E. Garcia Montserrat García‐Closas Frank Geller Eco J. C. de Geus Graham G. Giles Daníel F. Guðbjartsson Vilmundur Guðnason Pascal Guénel Suiqun Guo Per Hall Ute Hamann Robin Haring Catharina A. Hartman Andrew C. Heath Albert Hofman Maartje J. Hooning John L. Hopper Frank B. Hu David J. Hunter David Karasik Douglas P. Kiel

10.1038/nature13545 article EN Nature 2014-07-23
 A single-cell atlas of human and mouse white adipose tissue
OPENALEX - Publications 
Margo P. Emont Christopher Jacobs Adam L. Essene Deepti Pant Danielle Tenen and 33 more Georgia Colleluori Angelica Di Vincenzo Anja Moltke Jørgensen Hesam Dashti Adam Štefek Elizabeth R. McGonagle Sophie Strobel Samantha Laber Saaket Agrawal Gregory P. Westcott Amrita Kar Molly Veregge Anton Gulko Harini Srinivasan Zachary Kramer Eleanna De Filippis Erin Merkel Jennifer Ducie Christopher G. Boyd William Gourash Anita P. Courcoulas Samuel J. Lin Bernard T. Lee Donald J. Morris Adam M. Tobias Amit V. Khera Melina Claussnitzer Tune H. Pers Antonio Giordano Orr Ashenberg Aviv Regev Linus Tsai Evan D. Rosen

10.1038/s41586-022-04518-2 article EN Nature 2022-03-16
 Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
OPENALEX - Publications 
Aysu Okbay Yeda Wu Nancy Wang Hariharan Jayashankar Michael Bennett and 95 more Seyed Moeen Nehzati Julia Sidorenko Hyeokmoon Kweon Grant Goldman Tamara Gjorgjieva Yunxuan Jiang Barry Hicks Chao Tian David A. Hinds Rafael Ahlskog Patrik K. E. Magnusson Sven Oskarsson Caroline Hayward Archie Campbell David J. Porteous Jeremy Freese Pamela Herd Michelle Agee Babak Alipanahi Adam Auton Robert K. Bell Katarzyna Bryc Sarah L. Elson Pierre Fontanillas Nicholas A. Furlotte David A. Hinds Karen E. Huber Aaron Kleinman Nadia K. Litterman Jennifer C. McCreight Matthew H. McIntyre Joanna L. Mountain Carrie A. M. Northover Steven J. Pitts J. Fah Sathirapongsasuti Olga V. Sazonova Janie F. Shelton Suyash Shringarpure Joyce Y. Tung Vladimir Vacic Catherine H. Wilson Mark Alan Fontana Tune H. Pers Cornelius A. Rietveld Guo‐Bo Chen Valur Emilsson S. Fleur W. Meddens Joseph K. Pickrell Kevin Thom Pascal Timshel Ronald de Vlaming Abdel Abdellaoui Tarunveer S. Ahluwalia Jonas Bacelis Clemens Baumbach Gyða Björnsdóttir J Brandsma Maria Pina Concas Jaime Derringer Tessel E. Galesloot Giorgia Girotto Richa Gupta Leanne M. Hall Sarah E. Harris Edith Hofer Momoko Horikoshi Jennifer E. Huffman Kadri Kaasik Ioanna Panagiota Kalafati Robert Karlsson Jari Lahti Sven J. van der Lee Christiaan de Leeuw Penelope A. Lind Karl‐Oskar Lindgren Tian Liu Massimo Mangino Jonathan Marten Evelin Mihailov Michael Miller Peter J. van der Most Christopher Oldmeadow Antony Payton Natalia Pervjakova Wouter J. Peyrot Yong Qian Olli T. Raitakari Rico Rueedi Erika Salvi Börge Schmidt Katharina E. Schraut Jianxin Shi Albert V. Smith Raymond A. Poot Beaté St Pourcain

Abstract We conduct a genome-wide association study (GWAS) of educational attainment (EA) in sample ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A polygenic predictor, or index (PGI), explains 12–16% EA variance contributes to risk prediction for ten diseases. Direct effects (i.e., controlling parental PGIs) explain roughly half the PGI’s magnitude with other phenotypes. The correlation between mate-pair...

10.1038/s41588-022-01016-z article EN cc-by Nature Genetics 2022-03-31
 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
OPENALEX - Publications 
Catherine A. Brownstein Alan H. Beggs Nils Homer Barry Merriman Timothy W. Yu and 95 more Katherine C Flannery Elizabeth T. DeChene Meghan C. Towne Sarah Savage Emily Price Ingrid A. Holm Lovelace J. Luquette Elaine Lyon Joseph A. Majzoub Peter Neupert David P. McCallie Peter Szolovits Huntington F. Willard Nancy J. Mendelsohn Renee Temme Richard S. Finkel Sabrina W. Yum Līvija Medne Shamil Sunyaev Ivan Adzhubey Christopher A. Cassa Paul IW de Bakker Hatice Duzkale Piotr Dworzyński William G. Fairbrother Laurent C. Francioli Birgit Funke Monica A. Giovanni Robert E. Handsaker Kasper Lage Matthew S. Lebo Monkol Lek Ignaty Leshchiner Daniel G. MacArthur Heather M. McLaughlin Michael F. Murray Tune H. Pers Paz Polak Soumya Raychaudhuri Heidi L. Rehm Rachel Soemedi Nathan O. Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario C. Deng Martin Braun Sven Perner Richard J. Smith Janeen L Andorf Jian Huang Kelli K. Ryckman Val C. Sheffield Edwin M. Stone Thomas Bair E. Ann Black-Ziegelbein Terry A. Braun Benjamin W. Darbro Adam P. DeLuca Diana L. Kolbe Todd E. Scheetz A. Eliot Shearer Rama Sompallae Kai Wang Alexander G. Bassuk Erik Edens Katherine D. Mathews Steven A. Moore Oleg A. Shchelochkov Pamela Trapane Aaron Bossler Colleen A. Campbell Jonathan W. Heusel Anne E. Kwitek Tara Maga Karin Panzer Thomas H. Wassink Douglas J. Van Daele Héla Azaiez Kevin T. Booth Nic Meyer Michael M. Segal Marc S. Williams Gerard Tromp Peter White Donald J. Corsmeier Sara Fitzgerald‐Butt Gail E. Herman Devon Lamb-Thrush

There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into best practices in the areas of sequence data generation, analysis, interpretation reporting. The CLARITY Challenge was designed spur convergence diagnosing genetic disease starting from case history data. DNA samples were obtained three families with heritable disorders genomic donated by platform vendors....

10.1186/gb-2014-15-3-r53 article EN cc-by Genome biology 2014-03-25
 Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
OPENALEX - Publications 
Ekta Khurana Yao Fu Vincenza Colonna Xinmeng Jasmine Mu Hyun Min Kang and 43 more Tuuli Lappalainen Andrea Sboner Lucas Lochovsky Jieming Chen Arif Harmanci Jishnu Das Alexej Abyzov Suganthi Balasubramanian Kathryn Beal Dimple Chakravarty Daniel Challis Yuan Chen Declan Clarke Laura Clarke Fiona Cunningham Uday S. Evani Paul Flicek Robert Fragoza Erik Garrison Richard A. Gibbs Zeynep H. Gümüş Javier Herrero Naoki Kitabayashi Yong Kong Kasper Lage Vaja Liluashvili Steven M. Lipkin Daniel G. MacArthur Gábor Marth Donna M. Muzny Tune H. Pers Graham R. S. Ritchie Jeffrey Rosenfeld Cristina Sisu Xiaomu Wei Michael Wilson Yali Xue Fuli Yu Emmanouil T. Dermitzakis Haiyuan Yu Mark A. Rubin Chris Tyler‐Smith Mark Gerstein

Identifying Important Identifiers Each of us has millions sequence variations in our genomes. Signatures purifying or negative selection should help identify which those is functionally important. Khurana et al. ( 1235587 ) used polymorphisms from 1092 humans across 14 populations to patterns selection, especially noncoding regulatory regions. Noncoding regions under very strong included binding sites some chromatin and general transcription factors (TFs) core motifs important TF families....

10.1126/science.1235587 article EN Science 2013-10-03
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