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

Volltext

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations von Welter, Danielle, MacArthur, Jacqueline, Morales, Joannella, Burdett, Tony, Hall, Peggy, Junkins, Heather, Klemm, Alan, Flicek, Paul, Manolio, Teri, Hindorff, Lucia, Parkinson, Helen

Volltext

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

Volltext

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

Volltext

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains von Monk, David, Morales, Joannella, den Dunnen, Johan T., Russo, Silvia, Court, Franck, Prawitt, Dirk, Eggermann, Thomas, Beygo, Jasmin, Buiting, Karin, Tümer, Zeynep

Volltext

Patterns of pharmacogenetic variation in nine biogeographic groups von Hernandez, Sophia, Hindorff, Lucia A., Morales, Joannella, Ramos, Erin M., Manolio, Teri A.

Volltext

P877: Understanding the advantages of translating educational materials for the Clinical Genome Resource von Cordova, Ineke, Bly, Zo, Berg, Jonathan, Bulkley, Joanna, DiStefano, Marina, Klein, Teri, Morales, Joannella, Ritter, Deborah, Riggs, Erin

Volltext

The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements von Morales, Joannella, McMahon, Aoife C., Loveland, Jane, Perry, Emily, Frankish, Adam, Hunt, Sarah, Armean, Irina M., Flicek, Paul, Cunningham, Fiona

Volltext

Drosophila Fragile X Protein, DFXR, Regulates Neuronal Morphology and Function in the Brain von Morales, Joannella, Hiesinger, P.Robin, Schroeder, Andrew J., Kume, Kazuhiko, Verstreken, Patrik, Jackson, F.Rob, Nelson, David L., Hassan, Bassem A.

Volltext

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

Volltext

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH von Megy, Karyn, Downes, Kate, Simeoni, Ilenia, Bury, Loredana, Morales, Joannella, Mapeta, Rutendo, Bellissimo, Daniel B., Bray, Paul F., Goodeve, Anne C., Gresele, Paolo, Lambert, Michele, Reitsma, Pieter, Ouwehand, Willem H., Freson, Kathleen

Volltext

The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity von Cerezo, Maria, Sollis, Elliot, Ji, Yue, Lewis, Elizabeth, Abid, Ala, Bircan, Karatuğ Ozan, Hall, Peggy, Hayhurst, James, John, Sajo, Mosaku, Abayomi, Ramachandran, Santhi, Foreman, Amy, Ibrahim, Arwa, McLaughlin, James, Pendlington, Zoë, Stefancsik, Ray, Lambert, Samuel A, McMahon, Aoife, Morales, Joannella, Keane, Thomas, Inouye, Michael, Parkinson, Helen, Harris, Laura W

Volltext

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms von Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola

Volltext

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

Volltext

The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation von Andersen, Erica F., Azzariti, Danielle R., Babb, Larry, Berg, Jonathan S., Biesecker, Leslie G., Bly, Zo, Buchanan, Adam H., DiStefano, Marina T., Gong, Li, Harrison, Steven M., Hunter, Jessica Ezzell, Kattman, Brandi, Klein, Teri E., Landrum, Melissa J., Manickam, Kandamurugu, Marroquin, Alessandra Serrano, Martin, Christa L., Milko, Laura V., Milosavljevic, Aleksandar, Morales, Joannella, Nelson, Tristan H., Plon, Sharon E., Powell, Bradford C., Ramos, Erin M., Rehm, Heidi L., Riggs, Erin R., Ritter, Deborah, Shah, Neethu, Thaxton, Courtney L., Thorland, Erik C., Weaver, Meredith A., Weller, Phillip L., Wright, Matt W.

Volltext

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH von Megy, Karyn, Downes, Kate, Simeoni, Ilenia, Bury, Loredana, Morales, Joannella, Mapeta, Rutendo, Bellissimo, Daniel B, Bray, Paul F, Goodeve, Anne C, Gresele, Paolo, Lambert, Michele, Reitsma, Pieter, Ouwehand, Willem H, Freson, Kathleen

Volltext

Whole-genome sequencing of patients with rare diseases in a national health system von Turro, Ernest, Astle, William J, Megy, Karyn, Graef, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S, Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V, Aitman, Timothy J, Bennett, David L, Calleja, Paul, Carss, Keren, Caulfield, Mark J, Chinnery, Patrick F, Dixon, Peter H, Gale, Daniel P, James, Roger, Koziell, Ania, Laffan, Michael A, Levine, Adam P, Maher, Eamonn R, Markus, Hugh S, Morales, Joannella, Morrell, Nicholas W, Mumford, Andrew D, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A, Saleem, Moin A, Smith, Kenneth G.C, Stark, Hannah, Tan, Rhea Y.Y, Themistocleous, Andreas C, Thrasher, Adrian J, Watkins, Hugh, Webster, Andrew R, Wilkins, Martin R, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R, Kingston, Nathalie, Walker, Neil, Bradley, John R, Ashford, Sofie, Penkett, Christopher J, Freson, Kathleen, Stirrups, Kathleen E, Raymond, F. Lucy, Ouwehand, Willem H

Volltext

The Drosophila FMRP and LARK RNA-Binding Proteins Function Together to Regulate Eye Development and Circadian Behavior von Sofola, Oyinkan, Sundram, Vasudha, Ng, Fanny, Kleyner, Yelena, Morales, Joannella, Botas, Juan, Jackson, F. Rob, Nelson, David L

Volltext

Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain von Morales, Joannella, Hiesinger, P. Robin, Schroeder, Andrew J, Kume, Kazuhiko, Verstreken, Patrik, Jackson, F. Rob, Nelson, David L, Hassan, Bassem

Volltext

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH von Megy, Karyn, Downes, Kate, Simeoni, Ilenia, Bury, Loredana, Morales, Joannella, Mapeta, Rutendo, Bellissimo, Daniel B, Bray, Paul F, Goodeve, Anne C, Gresele, Paolo, Lambert, Michele, Reitsma, Pieter, Ouwehand, Willem H, Freson, Kathleen, Subcommittee on Genomics in Thrombosis and Hemostasis

Volltext bestellen