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 em 2014

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

Por Welter, Danielle, MacArthur, Jacqueline, Morales, Joannella, Burdett, Tony, Hall, Peggy, Junkins, Heather, Klemm, Alan, Flicek, Paul, Manolio, Teri, Hindorff, Lucia, Parkinson, Helen
Publicado em 2014

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 em 2014

Scaling up data curation using deep learning: An application to literature triage in genomic variation resources

Por Lee, Kyubum, Famiglietti, Maria Livia, McMahon, Aoife, Wei, Chih-Hsuan, MacArthur, Jacqueline Ann Langdon, Poux, Sylvain, Breuza, Lionel, Bridge, Alan, Cunningham, Fiona, Xenarios, Ioannis, Lu, Zhiyong
Publicado no PLoS Comput Biol (2018)

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 no Genome Biol Evol (2014)

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

Por MacArthur, Jacqueline, Bowler, Emily, Cerezo, Maria, Gil, Laurent, Hall, Peggy, Hastings, Emma, Junkins, Heather, McMahon, Aoife, Milano, Annalisa, Morales, Joannella, Pendlington, Zoe May, Welter, Danielle, Burdett, Tony, Hindorff, Lucia, Flicek, Paul, Cunningham, Fiona, Parkinson, Helen
Publicado no Nucleic Acids Res (2017)

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 no Genome Biol (2018)

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

Por Oetting, William S., Robinson, Peter N., Greenblatt, Marc S., Cotton, Richard G., Beck, Tim, Carey, John C., Doelken, Sandra C., Girdea, Marta, Groza, Tudor, Hamilton, Carol M., Hamosh, Ada, Kerner, Berit, MacArthur, Jacqueline A. L., Maglott, Donna R., Mons, Barend, Rehm, Heidi L., Schofield, Paul N., Searle, Beverly A., Smedley, Damian, Smith, Cynthia L., Bernstein, Inge Thomsen, Zankl, Andreas, Zhao, Eric Y.
Publicado em 2013

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Por Roberts, Angharad M., Ware, James S., Herman, Daniel S., Schafer, Sebastian, Baksi, John, Bick, Alexander G., Buchan, Rachel J., Walsh, Roddy, John, Shibu, Wilkinson, Samuel, Mazzarotto, Francesco, Felkin, Leanne E., Gong, Sungsam, MacArthur, Jacqueline A.L., Cunningham, Fiona, Flannick, Jason, Gabriel, Stacey B., Altshuler, David M., Macdonald, Peter S., Heinig, Matthias, Keogh, Anne M., Hayward, Christopher S., Banner, Nicholas R., Pennell, Dudley J., O’Regan, Declan, San, Tan Ru, de Marvao, Antonio, Dawes, Timothy J. W., Gulati, Ankur, Birks, Emma J., Yacoub, Magdi H., Radke, Michael, Gotthardt, Michael, Wilson, James G., O’Donnell, Christopher J., Prasad, Sanjay K., Barton, Paul J.R., Fatkin, Diane, Hubner, Norbert, Seidman, J. G., Seidman, Christine E., Cook, Stuart A.
Publicado no Sci Transl Med (2015)