Hilary K. Finucane

ORCID: 0000-0003-3864-9828
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Research Areas
  • Genetic Associations and Epidemiology
  • Bioinformatics and Genomic Networks
  • Genetic Mapping and Diversity in Plants and Animals
  • Genetic and phenotypic traits in livestock
  • Epigenetics and DNA Methylation
  • Genomics and Chromatin Dynamics
  • RNA Research and Splicing
  • RNA modifications and cancer
  • Genomics and Rare Diseases
  • BRCA gene mutations in cancer
  • Genetics and Neurodevelopmental Disorders
  • Gene expression and cancer classification
  • Hypothalamic control of reproductive hormones
  • Cancer Genomics and Diagnostics
  • Geometric and Algebraic Topology
  • Liver Disease Diagnosis and Treatment
  • Genomic variations and chromosomal abnormalities
  • Genetic Syndromes and Imprinting
  • Statistical Methods and Inference
  • Nutrition, Genetics, and Disease
  • RNA and protein synthesis mechanisms
  • Single-cell and spatial transcriptomics
  • SARS-CoV-2 and COVID-19 Research
  • Adipose Tissue and Metabolism
  • Birth, Development, and Health

Broad Institute
2015-2024

Massachusetts General Hospital
2020-2024

Harvard University
2010-2023

Massachusetts Institute of Technology
2012-2022

Genomics (United Kingdom)
2022

The University of Queensland
2019

IIT@MIT
2012-2016

British Heart Foundation
2015

Institute of Cancer Research
2015

Cancer Council Victoria
2015

Mitja Kurki Juha Karjalainen Priit Palta Timo P. Sipilä Kati Kristiansson and 95 more Kati Donner Mary Pat Reeve Hannele Laivuori Mervi Aavikko Mari Kaunisto Anu Loukola Elisa Lahtela Hannele Mattsson Päivi Laiho Pietro Della Briotta Parolo Arto Lehistö Masahiro Kanai Nina Mars Joel Rämö Tuomo Kiiskinen Henrike Heyne Kumar Veerapen Sina Rüeger Susanna Lemmelä Wei Zhou Sanni Ruotsalainen Kalle Pärn Tero Hiekkalinna Sami Koskelainen Teemu Paajanen Vincent Llorens Javier Gracia‐Tabuenca Harri Siirtola Kadri Reis Abdelrahman G. Elnahas Benjamin B. Sun Christopher N. Foley Katriina Aalto‐Setälä Kaur Alasoo Mikko Arvas Kirsi Auro Shameek Biswas Argyro Bizaki-Vallaskangas Olli Carpén Chia‐Yen Chen Oluwaseun Alexander Dada Zhihao Ding Margaret G. Ehm Kari K. Eklund Martti Färkkilâ Hilary K. Finucane Andrea Ganna Awaisa Ghazal Robert Graham Eric M. Green Antti Hakanen Marco Hautalahti Åsa K. Hedman Mikko Hiltunen Reetta Hinttala Iiris Hovatta Xinli Hu Adriana Huertas‐Vázquez Laura Huilaja Julie Hunkapiller Howard Jacob Jan-Nygaard Jensen Heikki Joensuu Sally John Valtteri Julkunen Marc Jung Juhani Junttila Kai Kaarniranta Mika Kähönen Risto Kajanne Lila Kallio Reetta Kälviäinen Jaakko Kaprio Nurlan Kerimov Johannes Kettunen Elina Kilpeläinen Terhi Kilpi K. Klinger Veli‐Matti Kosma Teijo Kuopio Venla Kurra Triin Laisk Jari A. Laukkanen Nathan Lawless Aoxing Liu Simonne Longerich Reedik Mägi Johanna Mäkelä Antti Mäkitie Anders Mälarstig Graham J. Mann Joseph Maranville Athena Matakidou Tuomo J Meretoja Sahar V. Mozaffari

Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These survived the founding bottleneck rather than being distributed over large ultrarare variants. Although this effect is well established Mendelian genetics, its value common disease genetics less explored 1,2 . FinnGen aims to study genome and national health register data...

10.1038/s41586-022-05473-8 article EN cc-by Nature 2023-01-18
Verneri Anttila Brendan Bulik‐Sullivan Hilary K. Finucane Raymond K. Walters José Brás and 95 more Laramie E. Duncan Valentina Escott‐Price Guido J. Falcone Padhraig Gormley Rainer Malik Nikolaos A. Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H. Lee Patrick Turley Benjamin Grenier‐Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean‐François Deleuze Emmanuelle Duron Badri N. Vardarajan Christiane Reitz Alison Goate Matthew J. Huentelman M. Ilyas Kamboh Eric B. Larson Ekaterina Rogaeva Peter St George‐Hyslop Hákon Hákonarson Walter A. Kukull Lindsay A. Farrer Lisa L. Barnes Thomas G. Beach F. Yesim Demirci Elizabeth Head Christine M. Hulette Gregory A. Jicha John S.K. Kauwe Jonathan Kaye James B. Leverenz Allan I. Levey Andrew P. Lieberman V. Shane Pankratz Wayne W. Poon Joseph F. Quinn Andrew J. Saykin Lon S. Schneider Amanda Smith Joshua A. Sonnen Robert A. Stern Vivianna M. Van Deerlin Linda J. Van Eldik Denise Harold Giancarlo Russo David C. Rubinsztein Antony Bayer Magda Tsolaki Petroula Proitsi Nick C. Fox Harald Hampel Michael J. Owen Simon Mead Peter Passmore Kevin Morgan Markus M. Nöthen Jonathan M. Schott Martin N. Rossor Michelle K. Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al‐Chalabi Joshua C. Bis Agustı́n Ruiz Merçé Boada Sudha Seshadri Alexa S. Beiser Kenneth Rice Sven J. van der Lee Philip L. De Jager Daniel H. Geschwind Markus J. Riemenschneider Steffi G. Riedel‐Heller Jerome I. Rotter Gerhard Ransmayr Bradley T. Hyman Carlos Cruchaga Montserrat Alegret Bendik S. Winsvold Priit Palta Kai-How Farh Ester Cuenca-León Nicholas A. Furlotte

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified genetic sharing 25 disorders from genome-wide association studies 265,218 patients 784,643 control participants assessed relationship to 17 phenotypes 1,191,588 individuals. Psychiatric common variant risk, whereas neurological appear more distinct one another psychiatric disorders. also identified significant between a number...

10.1126/science.aap8757 article EN Science 2018-06-21
Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui and 95 more Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan M. Glubb Asha Rostamianfar Manjeet K. Bolla Qin Wang Jonathan P. Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D. French Xiaohong Chen Laura Fachal Karen McCue Amy E. McCart Reed Maya Ghoussaini Jason S. Carroll Xia Jiang Hilary K. Finucane Marcia Adams Muriel A. Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Banu K. Arun Paul L. Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Judith S. Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise A. Brinton Per Broberg Ian W. Brock Annegien Broeks Angela Brooks‐Wilson Sara Y. Brucker Thomas Brüning Barbara Burwinkel Katja Butterbach Qiuyin Cai Hui Cai Trinidad Caldés Federico Canzian Ángel Carracedo Brian D. Carter Jose E. Castelao Tsun Leung Chan Ting‐Yuan David Cheng Kee Seng Chia Ji‐Yeob Choi Hans Christiansen Christine L. Clarke Margriet Collée Don Conroy Emilie Cordina‐Duverger Sten Cornelissen David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Peter Devilee Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana Eccles Arif B. Ekici A. Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel

10.1038/nature24284 article EN Nature 2017-10-20
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

LD score regression is a reliable and efficient method of using genome-wide association study (GWAS) summary-level results data to estimate the SNP heritability complex traits diseases, partition this into functional categories, genetic correlation between different phenotypes. Because relies on summary level data, computationally tractable even for very large sample sizes. However, publicly available GWAS are typically stored in databases have formats, making it difficult apply correlations...

10.1093/bioinformatics/btw613 article EN cc-by Bioinformatics 2016-09-22
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
Felix R. Day Deborah J. Thompson Hannes Helgason Daniel I. Chasman Hilary K. Finucane and 95 more Patrick Sulem Katherine S. Ruth Sean Whalen Abhishek Sarkar Eva Albrecht Elisabeth Altmaier Marzyeh Amini Caterina Barbieri Thibaud Boutin Archie Campbell Ellen W. Demerath Ayush Giri Chunyan He Jouke‐Jan Hottenga Robert Karlsson Ivana Kolčić Po−Ru Loh Kathryn L. Lunetta Massimo Mangino Marco Brumat George McMahon Sarah E. Medland Ilja M. Nolte Raymond Noordam Teresa Nutile Lavinia Paternoster Natalia Perjakova Eleonora Porcu Lynda M. Rose Katharina E. Schraut Ayellet V. Segrè Albert V. Smith Lisette Stolk Alexander Teumer Irene L. Andrulis Stefania Bandinelli Matthias W. Beckmann Javier Benı́tez Sven Bergmann Murielle Bochud Eric Boerwinkle Stig E. Bojesen Manjeet K. Bolla Judith S. Brand Hiltrud Brauch Hermann Brenner Linda Broer Thomas Brüning Julie E. Buring Harry Campbell Eulalia Catamo Stephen J. Chanock Georgia Chenevix‐Trench Tanguy Corre Fergus J. Couch Diana L. Cousminer Angela Cox Laura Crisponi Kamila Czene George Davey Smith Eco J. C. de Geus Renée de Mutsert Immaculata De Vivo Joe Dennis Peter Devilee Isabel dos‐Santos‐Silva Alison M. Dunning Johan G. Eriksson Peter A. Fasching Lindsay Fernández‐Rhodes Luigi Ferrucci Dieter Flesch‐Janys Lude Franke Marike Gabrielson Ilaria Gandin Graham G. Giles Harald Grallert Daníel F. Guðbjartsson Pascal Guénel Per Hall Emily Hallberg Ute Hamann Tamara B. Harris Catharina A. Hartman Gerardo Heiss Maartje J. Hooning John L. Hopper Frank B. Hu David J. Hunter M. Arfan Ikram Hae Kyung Im Marjo‐Riitta Järvelin Peter K. Joshi David Karasik Manolis Kellis

10.1038/ng.3841 article EN Nature Genetics 2017-04-24
Felix R. Day Katherine S. Ruth Deborah J. Thompson Kathryn L. Lunetta Natalia Pervjakova and 95 more Daniel I. Chasman Lisette Stolk Hilary K. Finucane Patrick Sulem Brendan Bulik‐Sullivan Tõnu Esko Andrew D. Johnson Cathy E. Elks Nora Franceschini Chunyan He Elisabeth Altmaier Jennifer A. Brody Lude Franke Jennifer E. Huffman Margaux F. Keller Patrick F. McArdle Teresa Nutile Eleonora Porcu Antonietta Robino Lynda M. Rose Ursula M. Schick Jennifer A. Smith Alexander Teumer Michela Traglia Dragana Vuckovic Jie Yao Wei Zhao Eva Albrecht Najaf Amin Tanguy Corre Jouke‐Jan Hottenga Massimo Mangino Albert V. Smith Toshiko Tanaka Gonçalo R. Abecasis Irene L. Andrulis Hoda Anton‐Culver Antonis C. Antoniou Volker Arndt Alice M. Arnold Caterina Barbieri Matthias W. Beckmann Alicia Beeghly‐Fadiel Javier Benı́tez Leslie Bernstein Suzette J. Bielinski Carl Blomqvist Eric Boerwinkle Natalia Bogdanova Stig E. Bojesen Manjeet K. Bolla Anne‐Lise Børresen‐Dale Thibaud Boutin Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Archie Campbell Harry Campbell Stephen J. Chanock J. Ross Chapman Yii-Der Ida Chen Georgia Chenevix‐Trench Fergus J. Couch Andrea D. Coviello Angela Cox Kamila Czene Hatef Darabi Immaculata De Vivo Ellen W. Demerath Joe Dennis Peter Devilee Thilo Dörk Isabel dos‐Santos‐Silva Alison M. Dunning John D. Eicher Peter A. Fasching Jessica D. Faul Jonine D. Figueroa Dieter Flesch‐Janys Ilaria Gandin Melissa E. Garcia Montserrat García‐Closas Graham G. Giles Giorgia Girotto Mark S. Goldberg Anna González‐Neira Mark O. Goodarzi Megan L. Grove Daníel F. Guðbjartsson Pascal Guénel Xiuqing Guo Christopher A. Haiman Per Hall Ute Hamann

10.1038/ng.3412 article EN Nature Genetics 2015-09-28
Roger L. Milne Karoline Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar and 95 more Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary K. Finucane Manjeet K. Bolla Lesley McGuffog Qin Wang Cora M. Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al‐Ejeh Jamie Allen Christine B. Ambrosone Christopher I. Amos Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Norbert Arnold Kristan J. Aronson Bernd Auber Paul L. Auer Margreet G.E.M. Ausems Jacopo Azzollini François Bacot Judith Balmañà Monica Barile Laure Barjhoux Rósa B. Barkardóttir Myrto Barrdahl Daniel R. Barnes Daniel Barrowdale Caroline Baynes Matthias W. Beckmann Javier Benı́tez Marina Bermisheva Leslie Bernstein Yves‐Jean Bignon Kathleen R. Blazer Marinus J. Blok Carl Blomqvist William J. Blot Kristie Bobolis Bram Boeckx Natalia Bogdanova Anders Bojesen Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Anikó Bozsik Angela R. Bradbury Judith S. Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac–de Paillerets Carole Brewer Louise A. Brinton Per Broberg Angela Brooks‐Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S. Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A. Caligo Ian Campbell Federico Canzian Olivier Caron Ángel Carracedo Brian D. Carter Jose E. Castelao Laurent Castéra Virginie Caux‐Moncoutier Salina Chan Jenny Chang‐Claude Stephen J. Chanock Xiaohong Chen Ting‐Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen Claes Christine L. Clarke Thomas Conner Don Conroy Jackie Cook

10.1038/ng.3785 article EN Nature Genetics 2017-10-23
Mitja Kurki Juha Karjalainen Priit Palta Timo P. Sipilä Kati Kristiansson and 95 more Kati Donner Mary Pat Reeve Hannele Laivuori Mervi Aavikko Mari Kaunisto Anu Loukola Elisa Lahtela Hannele Mattsson Päivi Laiho Pietro Della Briotta Parolo Arto Lehistö Masahiro Kanai Nina Mars Joel Rämö Tuomo Kiiskinen Henrike Heyne Kumar Veerapen Sina Rüeger Susanna Lemmelä Wei Zhou Sanni Ruotsalainen Kalle Pärn Tero Hiekkalinna Sami Koskelainen Teemu Paajanen Vincent Llorens Javier Gracia‐Tabuenca Harri Siirtola Kadri Reis Abdelrahman G. Elnahas Katriina Aalto‐Setälä Kaur Alasoo Mikko Arvas Kirsi Auro Shameek Biswas Argyro Bizaki-Vallaskangas Olli Carpén Chia‐Yen Chen Oluwaseun Alexander Dada Zhihao Ding Margaret G. Ehm Kari K. Eklund Martti Färkkilâ Hilary K. Finucane Andrea Ganna Awaisa Ghazal Robert Graham Eric Green Antti Hakanen Marco Hautalahti Åsa K. Hedman Mikko Hiltunen Reetta Hinttala Iiris Hovatta Xinli Hu Adriana Huertas‐Vázquez Laura Huilaja Julie Hunkapiller Howard J. Jacob Jan-Nygaard Jensen Heikki Joensuu Sally John Valtteri Julkunen Marc Jung Juhani Junttila Kai Kaarniranta Mika Kähönen Risto Kajanne Lila Kallio Reetta Kälviäinen Jaakko Kaprio Nurlan Kerimov Johannes Kettunen Elina Kilpeläinen Terhi Kilpi K. Klinger Veli‐Matti Kosma Teijo Kuopio Venla Kurra Triin Laisk Jari A. Laukkanen Nathan Lawless Aoxing Liu Simonne Longerich Reedik Mägi Johanna Mäkelä Antti Mäkitie Anders Mälarstig Arto Mannermaa Joseph Maranville Athena Matakidou Tuomo J Meretoja Sahar V. Mozaffari Mari Niemi Marianna Niemi

ABSTRACT Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles any gene is often concentrated on a small number low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived founding bottleneck, opposed to being distributed over much larger ultra--rare variants. While this advantage well-- established Mendelian genetics, its value common disease genetics has been less explored. FinnGen aims study genome and...

10.1101/2022.03.03.22271360 preprint EN cc-by medRxiv (Cold Spring Harbor Laboratory) 2022-03-06
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