Allele-specific methylation occurs at genetic variants associated with complex disease.

by John N Hutchinson, Towfique Raj, Jes Fagerness, Eli Stahl, Fernando T Viloria, Alexander Gimelbrant, Johanna Seddon, Mark Daly, Andrew Chess, Robert Plenge
Published 2014-01-01

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

by James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Shamil Sunyaev, Mark Daly, Daniel G. MacArthur
Published 2016-10-01

Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration

by Johanna M. Seddon, Dikha De, William Casazza, Shun-Yun Cheng, Claudio Punzo, Mark Daly, Danlei Zhou, Samantha L. Coss, John P. Atkinson, Chack-Yung Yu
Published 2024-01-01

Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks

by Rounak Dey, Wei Zhou, Tuomo Kiiskinen, Aki Havulinna, Amanda Elliott, Juha Karjalainen, Mitja Kurki, Ashley Qin, FinnGen, Seunggeun Lee, Aarno Palotie, Benjamin Neale, Mark Daly, Xihong Lin
Published 2022-09-01

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

by Nina Mars, Elisabeth Widén, Sini Kerminen, Tuomo Meretoja, Matti Pirinen, Pietro della Briotta Parolo, Priit Palta, FinnGen, Aarno Palotie, Jaakko Kaprio, Heikki Joensuu, Mark Daly, Samuli Ripatti
Published 2020-12-01

A chromosome scale assembly of the tarnished plant bug, Lygus lineolaris (Palisot de Beauvois), genome

by O. P. Perera, Surya Saha, James Glover, Katherine A. Parys, K. Clint Allen, Snejana Grozeva, Ryan Kurtz, Gadi V. P. Reddy, J. Spencer Johnston, Mark Daly, Thomas Swale
Published 2023-06-01

Genetic analyses implicate complex links between adult testosterone levels and health and disease

by Jaakko T. Leinonen, Nina Mars, Leevi E. Lehtonen, Ari Ahola-Olli, Sanni Ruotsalainen, Terho Lehtimäki, Mika Kähönen, Olli Raitakari, FinnGen Consortium, Terhi Piltonen, Mark Daly, Tiinamaija Tuomi, Samuli Ripatti, Matti Pirinen, Taru Tukiainen
Published 2023-01-01

Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration

by Tianxiao Huan, PhD, Shun-Yun Cheng, PhD, Bo Tian, MD, PhD, Claudio Punzo, PhD, Haijiang Lin, MD, PhD, Mark Daly, PhD, Johanna M. Seddon, MD, ScM
Published 2023-03-01

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

by João Fadista, Line Skotte, Juha Karjalainen, Erik Abner, Erik Sørensen, Henrik Ullum, Thomas Werge, iPSYCH Group, Tõnu Esko, Lili Milani, Aarno Palotie, Mark Daly, FinnGen Consortium, Mads Melbye, Bjarke Feenstra, Frank Geller
Published 2022-06-01

Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation

by Elmo C. Saarentaus, Juha Karjalainen, Joel T. Rämö, Tuomo Kiiskinen, Aki S. Havulinna, Juha Mehtonen, Heidi Hautakangas, Sanni Ruotsalainen, Max Tamlander, Nina Mars, FINNGEN, Sanna Toppila-Salmi, Matti Pirinen, Mitja Kurki, Samuli Ripatti, Mark Daly, Tuula Palotie, Antti Mäkitie, Aarno Palotie
Published 2023-01-01

Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans

by Susanna Lemmelä, Eleanor M Wigmore, Christian Benner, Aki S Havulinna, Rachel MY Ong, Tibor Kempf, Kai C Wollert, Stefan Blankenberg, Tanja Zeller, James E Peters, Veikko Salomaa, Maria Fritsch, Ruth March, Aarno Palotie, Mark Daly, Adam S Butterworth, Mervi Kinnunen, Dirk S Paul, Athena Matakidou
Published 2022-08-01

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

by Jesper Buchhave Poulsen, Francesco Lescai, Jakob Grove, Marie Bækvad-Hansen, Michael Christiansen, Christian Munch Hagen, Julian Maller, Christine Stevens, Shenting Li, Qibin Li, Jihua Sun, Jun Wang, Merete Nordentoft, Thomas Mears Werge, Preben Bo Mortensen, Anders Dupont Børglum, Mark Daly, David Michael Hougaard, Jonas Bybjerg-Grauholm, Mads Vilhelm Hollegaard
Published 2016-01-01

Cohort profile: SUPER-Finland – the Finnish study for hereditary mechanisms of psychotic disorders

by Jari Tiihonen, Ari Ahola-Olli, Tiina Paunio, Aarno Palotie, Mark Daly, Risto Kajanne, Erkki Isometsä, Juha Veijola, Jouko Lönnqvist, Olli Kampman, Jaana Suvisaari, Kimmo Suokas, Markku Lähteenvuo, Minna Holm, Zuzanna Misiewicz, Tuomas Jukuri, Teemu Männynsalo, Asko Wegelius, Willehard Haaki, Aija Kyttälä, Annamari Tuulio-Henriksson, Kaisla Lahdensuo, Katja Häkkinen, Jarmo Hietala, Jussi Niemi-Pynttäri, Tuula Kieseppä, Steven Hyman, Benjamin Neale
Published 2023-04-01

O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)

by Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski
Published 2024-01-01

SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease

by Satu Strausz, Erik Abner, Grace Blacker, Sarah Galloway, Paige Hansen, Qingying Feng, Brandon T. Lee, Samuel E. Jones, Hele Haapaniemi, Sten Raak, George Ronald Nahass, Erin Sanders, FinnGen, Estonian Genome Centre, Estonian Biobank Research Team, Pilleriin Soodla, Urmo Võsa, Tõnu Esko, Nasa Sinnott-Armstrong, Irving L. Weissman, Mark Daly, Tuomas Aivelo, Michal Caspi Tal, Hanna M. Ollila
Published 2024-03-01

O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function

by Heidi Rehm, Julia Goodrich, Katherine Chao, Kristen Laricchia, Michael Wilson, Jack Fu, Grace Tiao, Qin He, Daniel Marten, Timothy Poterba, Christopher Vittal, Siwei Chen, Wenhan Lu, Samantha Baxter, Sinéad Chapman, Caroline Cusick, Philip Darnowsky, Laura Gauthier, Leonhard Gruenschloss, Riley Grant, Stephen Jahl, Matthew Solomonson, Christine Stevens, Daniel MacArthur, Michael Talkowski, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Konrad Karczewski, Mark Daly
Published 2024-01-01

Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

by Connor A Emdin, Mary E Haas, Amit V Khera, Krishna Aragam, Mark Chaffin, Derek Klarin, George Hindy, Lan Jiang, Wei-Qi Wei, Qiping Feng, Juha Karjalainen, Aki Havulinna, Tuomo Kiiskinen, Alexander Bick, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Danish Saleheen, Kyong-Mi Chang, Marijana Vujkovic, Ben Voight, Scott Damrauer, Julie Lynch, David Kaplan, Marina Serper, Philip Tsao, Million Veteran Program, Josep Mercader, Craig Hanis, Mark Daly, Joshua Denny, Stacey Gabriel, Sekar Kathiresan
Published 2021-04-01

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

by Connor A Emdin, Mary E Haas, Amit V Khera, Krishna Aragam, Mark Chaffin, Derek Klarin, George Hindy, Lan Jiang, Wei-Qi Wei, Qiping Feng, Juha Karjalainen, Aki Havulinna, Tuomo Kiiskinen, Alexander Bick, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Danish Saleheen, Kyong-Mi Chang, Marijana Vujkovic, Ben Voight, Scott Damrauer, Julie Lynch, David Kaplan, Marina Serper, Philip Tsao, Million Veteran Program, Josep Mercader, Craig Hanis, Mark Daly, Joshua Denny, Stacey Gabriel, Sekar Kathiresan
Published 2020-04-01

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

by Ralda Nehme, Olli Pietiläinen, Mykyta Artomov, Matthew Tegtmeyer, Vera Valakh, Leevi Lehtonen, Christina Bell, Tarjinder Singh, Aditi Trehan, John Sherwood, Danielle Manning, Emily Peirent, Rhea Malik, Ellen J. Guss, Derek Hawes, Amanda Beccard, Anne M. Bara, Dane Z. Hazelbaker, Emanuela Zuccaro, Giulio Genovese, Alexander A. Loboda, Anna Neumann, Christina Lilliehook, Outi Kuismin, Eija Hamalainen, Mitja Kurki, Christina M. Hultman, Anna K. Kähler, Joao A. Paulo, Andrea Ganna, Jon Madison, Bruce Cohen, Donna McPhie, Rolf Adolfsson, Roy Perlis, Ricardo Dolmetsch, Samouil Farhi, Steven McCarroll, Steven Hyman, Ben Neale, Lindy E. Barrett, Wade Harper, Aarno Palotie, Mark Daly, Kevin Eggan
Published 2022-06-01

Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer

by Wei Zhou, Ben Brumpton, Omer Kabil, Julius Gudmundsson, Gudmar Thorleifsson, Josh Weinstock, Matthew Zawistowski, Jonas B. Nielsen, Layal Chaker, Marco Medici, Alexander Teumer, Silvia Naitza, Serena Sanna, Ulla T. Schultheiss, Anne Cappola, Juha Karjalainen, Mitja Kurki, Morgan Oneka, Peter Taylor, Lars G. Fritsche, Sarah E. Graham, Brooke N. Wolford, William Overton, Humaira Rasheed, Eirin B. Haug, Maiken E. Gabrielsen, Anne Heidi Skogholt, Ida Surakka, George Davey Smith, Anita Pandit, Tanmoy Roychowdhury, Whitney E. Hornsby, Jon G. Jonasson, Leigha Senter, Sandya Liyanarachchi, Matthew D. Ringel, Li Xu, Lambertus A. Kiemeney, Huiling He, Romana T. Netea-Maier, Jose I. Mayordomo, Theo S. Plantinga, Jon Hrafnkelsson, Hannes Hjartarson, Erich M. Sturgis, Aarno Palotie, Mark Daly, Cintia E. Citterio, Peter Arvan, Chad M. Brummett, Michael Boehnke, Albert de la Chapelle, Kari Stefansson, Kristian Hveem, Cristen J. Willer, Bjørn Olav Åsvold
Published 2021-12-01