Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Goodrich, Julia K"'
Autor:
Gudmundsson, Sanna, Singer-Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Consortium, Genome Aggregation Database, Rehm, Heidi L., MacArthur, Daniel G., ODonnell-Luria, Anne
Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery of new di
Externí odkaz:
http://arxiv.org/abs/2107.11458
Autor:
Lu, Wenhan, Gauthier, Laura D., Poterba, Timothy, Giacopuzzi, Edoardo, Goodrich, Julia K., Stevens, Christine R., King, Daniel, Daly, Mark J., Neale, Benjamin M., Karczewski, Konrad J.
Publikováno v:
In The American Journal of Human Genetics 7 December 2023 110(12):2068-2076
Autor:
Karczewski, Konrad J., Solomonson, Matthew, Chao, Katherine R., Goodrich, Julia K., Tiao, Grace, Lu, Wenhan, Riley-Gillis, Bridget M., Tsai, Ellen A., Kim, Hye In, Zheng, Xiuwen, Rahimov, Fedik, Esmaeeli, Sahar, Grundstad, A. Jason, Reppell, Mark, Waring, Jeff, Jacob, Howard, Sexton, David, Bronson, Paola G., Chen, Xing, Hu, Xinli, Goldstein, Jacqueline I., King, Daniel, Vittal, Christopher, Poterba, Timothy, Palmer, Duncan S., Churchhouse, Claire, Howrigan, Daniel P., Zhou, Wei, Watts, Nicholas A., Nguyen, Kevin, Nguyen, Huy, Mason, Cara, Farnham, Christopher, Tolonen, Charlotte, Gauthier, Laura D., Gupta, Namrata, MacArthur, Daniel G., Rehm, Heidi L., Seed, Cotton, Philippakis, Anthony A., Daly, Mark J., Davis, J. Wade, Runz, Heiko, Miller, Melissa R., Neale, Benjamin M.
Publikováno v:
In Cell Genomics 14 September 2022 2(9)
Akademický článek
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Akademický článek
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Publikováno v:
Science, 2016 Apr . 352(6285), 532-535.
Externí odkaz:
http://www.jstor.org/stable/24744855
Autor:
Koenig, Zan, Yohannes, Mary T., Nkambule, Lethukuthula L., Goodrich, Julia K., Kim, Heesu Ally, Zhao, Xuefang, Wilson, Michael W., Tiao, Grace, Hao, Stephanie P., Sahakian, Nareh, Chao, Katherine R., Talkowski, Michael E., Daly, Mark J., Brand, Harrison, Karczewski, Konrad J., Atkinson, Elizabeth G., Martin, Alicia R.
Publikováno v:
bioRxiv
Underrepresented populations are often excluded from genomic studies due in part to a lack of resources supporting their analysis. The 1000 Genomes Project (1kGP) and Human Genome Diversity Project (HGDP), which have recently been sequenced to high c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::77a4c388be7b5cb64e026680702cfc3d
https://europepmc.org/articles/PMC9900804/
https://europepmc.org/articles/PMC9900804/
Autor:
Koenig, Zan, Yohannes, Mary T., Nkambule, Lethukuthula L., Zhao, Xuefang, Goodrich, Julia K., Kim, Heesu Ally, Wilson, Michael W., Tiao, Grace, Hao, Stephanie P., Sahakian, Nareh, Chao, Katherine R., Walker, Mark A., Lyu, Yunfei, Rehm, Heidi L., Neale, Benjamin M., Talkowski, Michael E., Daly, Mark J., Brand, Harrison, Karczewski, Konrad J., Atkinson, Elizabeth G., Martin, Alicia R.
Publikováno v:
Genome Research; 2024, Vol. 34 Issue: 5 p796-809, 14p
Akademický článek
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Autor:
Goodrich, Julia K, Singer-Berk, Moriel, Son, Rachel, Sveden, Abigail, Wood, Jordan, England, Eleina, Cole, Joanne B, Weisburd, Ben, Watts, Nick, Caulkins, Lizz, Dornbos, Peter, Koesterer, Ryan, Zappala, Zachary, Zhang, Haichen, Maloney, Kristin A, Dahl, Andy, Aguilar-Salinas, Carlos A, Atzmon, Gil, Barajas-Olmos, Francisco, Barzilai, Nir, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Bowden, Donald W, Centeno-Cruz, Federico, Chambers, John C, Chami, Nathalie, Chan, Edmund, Chan, Juliana, Cheng, Ching-Yu, Cho, Yoon Shin, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, DeFronzo, Ralph A, Duggirala, Ravindranath, Dupuis, Josée, Garay-Sevilla, Ma Eugenia, García-Ortiz, Humberto, Gieger, Christian, Glaser, Benjamin, González-Villalpando, Clicerio, Gonzalez, Ma Elena, Grarup, Niels, Groop, Leif, Gross, Myron, Haiman, Christopher, Han, Sohee, Hanis, Craig L, Hansen, Torben, Heard-Costa, Nancy L, Henderson, Brian E, Hernandez, Juan Manuel Malacara, Hwang, Mi Yeong, Islas-Andrade, Sergio, Jørgensen, Marit E, Kang, Hyun Min, Kim, Bong-Jo, Kim, Young Jin, Koistinen, Heikki A, Kooner, Jaspal Singh, Kuusisto, Johanna, Kwak, Soo-Heon, Laakso, Markku, Lange, Leslie, Lee, Jong-Young, Lee, Juyoung, Lehman, Donna M, Linneberg, Allan, Liu, Jianjun, Loos, Ruth JF, Lyssenko, Valeriya, Ma, Ronald CW, Martínez-Hernández, Angélica, Meigs, James B, Meitinger, Thomas, Mendoza-Caamal, Elvia, Mohlke, Karen L, Morris, Andrew D, Morrison, Alanna C, Ng, Maggie CY, Nilsson, Peter M, O'Donnell, Christopher J, Orozco, Lorena, Palmer, Colin NA, Park, Kyong Soo, Post, Wendy S, Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M, Reiner, Alexander P, Revilla-Monsalve, Cristina, Rich, Stephen S, Rotter, Jerome I, Saleheen, Danish, Schurmann, Claudia, Sim, Xueling, Sladek, Rob, Small, Kerrin S
Publikováno v:
Nature communications, vol 12, iss 1
Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical util
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bf2cf6d0400cdcd8efed2796a0614c60
https://escholarship.org/uc/item/0dd6m6fw
https://escholarship.org/uc/item/0dd6m6fw