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

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

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

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

GWAS of thyroid stimulating hormone highlights 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 2020-08-01

Proxy genotypes and phenotypes for human genetics

by Yelensky, Roman
Published 2009