The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age

por MacArthur, Jacqueline A. L., Spector, Timothy D., Lindsay, Sarah J., Mangino, Massimo, Gill, Raj, Small, Kerrin S., Hurles, Matthew E.
Publicado 2014

Sequencing-based genome-wide association studies reporting standards

por McMahon, Aoife, Lewis, Elizabeth, Buniello, Annalisa, Cerezo, Maria, Hall, Peggy, Sollis, Elliot, Parkinson, Helen, Hindorff, Lucia A., Harris, Laura W., MacArthur, Jacqueline A.L.
Publicado 2021

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

por MacArthur, Jacqueline A. L., Morales, Joannella, Tully, Ray E., Astashyn, Alex, Gil, Laurent, Bruford, Elspeth A., Larsson, Pontus, Flicek, Paul, Dalgleish, Raymond, Maglott, Donna R., Cunningham, Fiona
Publicado 2014

Evidence of Convergent Evolution in Humans and Macaques Supports an Adaptive Role for Copy Number Variation of the β-Defensin-2 Gene

por Ottolini, Barbara, Hornsby, Michael J., Abujaber, Razan, MacArthur, Jacqueline A.L., Badge, Richard M., Schwarzacher, Trude, Albertson, Donna G., Bevins, Charles L., Solnick, Jay V., Hollox, Edward J.
Publicado 2014

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

por Morales, Joannella, Welter, Danielle, Bowler, Emily H., Cerezo, Maria, Harris, Laura W., McMahon, Aoife C., Hall, Peggy, Junkins, Heather A., Milano, Annalisa, Hastings, Emma, Malangone, Cinzia, Buniello, Annalisa, Burdett, Tony, Flicek, Paul, Parkinson, Helen, Cunningham, Fiona, Hindorff, Lucia A., MacArthur, Jacqueline A. L.
Publicado 2018

Workshop proceedings: GWAS summary statistics standards and sharing

por MacArthur, Jacqueline A.L., Buniello, Annalisa, Harris, Laura W., Hayhurst, James, McMahon, Aoife, Sollis, Elliot, Cerezo, Maria, Hall, Peggy, Lewis, Elizabeth, Whetzel, Patricia L., Bahcall, Orli G., Barroso, Inês, Carroll, Robert J., Inouye, Michael, Manolio, Teri A., Rich, Stephen S., Hindorff, Lucia A., Wiley, Ken, Parkinson, Helen
Publicado 2021

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

por Buniello, Annalisa, MacArthur, Jacqueline A L, Cerezo, Maria, Harris, Laura W, Hayhurst, James, Malangone, Cinzia, McMahon, Aoife, Morales, Joannella, Mountjoy, Edward, Sollis, Elliot, Suveges, Daniel, Vrousgou, Olga, Whetzel, Patricia L, Amode, Ridwan, Guillen, Jose A, Riat, Harpreet S, Trevanion, Stephen J, Hall, Peggy, Junkins, Heather, Flicek, Paul, Burdett, Tony, Hindorff, Lucia A, Cunningham, Fiona, Parkinson, Helen
Publicado 2019

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

por Sollis, Elliot, Mosaku, Abayomi, Abid, Ala, Buniello, Annalisa, Cerezo, Maria, Gil, Laurent, Groza, Tudor, Güneş, Osman, Hall, Peggy, Hayhurst, James, Ibrahim, Arwa, Ji, Yue, John, Sajo, Lewis, Elizabeth, MacArthur, Jacqueline A L, McMahon, Aoife, Osumi-Sutherland, David, Panoutsopoulou, Kalliope, Pendlington, Zoë, Ramachandran, Santhi, Stefancsik, Ray, Stewart, Jonathan, Whetzel, Patricia, Wilson, Robert, Hindorff, Lucia, Cunningham, Fiona, Lambert, Samuel A, Inouye, Michael, Parkinson, Helen, Harris, Laura W
Publicado 2022

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

por Ghoussaini, Maya, Mountjoy, Edward, Carmona, Miguel, Peat, Gareth, Schmidt, Ellen M, Hercules, Andrew, Fumis, Luca, Miranda, Alfredo, Carvalho-Silva, Denise, Buniello, Annalisa, Burdett, Tony, Hayhurst, James, Baker, Jarrod, Ferrer, Javier, Gonzalez-Uriarte, Asier, Jupp, Simon, Karim, Mohd Anisul, Koscielny, Gautier, Machlitt-Northen, Sandra, Malangone, Cinzia, Pendlington, Zoe May, Roncaglia, Paola, Suveges, Daniel, Wright, Daniel, Vrousgou, Olga, Papa, Eliseo, Parkinson, Helen, MacArthur, Jacqueline A L, Todd, John A, Barrett, Jeffrey C, Schwartzentruber, Jeremy, Hulcoop, David G, Ochoa, David, McDonagh, Ellen M, Dunham, Ian
Publicado 2020