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Tìm được 16 kết quả
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial
Tác giả: Kristine Barlow-Stewart, Eliza Courtney, Mitali Manzur, Chelsea Mayoh, Dianne Milnes, Jane Nielsen, Matthew O'Connor, Bhavna Padhye, Catherine Pitman, Elizabeth Pitman, Mark Pinese, Catherine Speechly, Mark Cowley, Ashleigh Sullivan, Toby Trahair, Katherine Tucker, Vanessa Tyrrell, Meera Warby, Andrew Wood, David S Ziegler, Carolyn Johnston, Camron Ebzery, Noemi Fuentes Bolanos, Andrew J Gifford, Hazel Harden, Sarah Josephi-Taylor, Rishi S Kotecha, Marion K Mateos
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  355.24
 
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial
Tác giả: Kristine Barlow-Stewart, Eliza Courtney, Mitali Manzur, Chelsea Mayoh, Dianne Milnes, Jane Nielsen, Matthew O'Connor, Bhavna Padhye, Catherine Pitman, Elizabeth Pitman, Mark Pinese, Catherine Speechly, Mark Cowley, Ashleigh Sullivan, Toby Trahair, Katherine Tucker, Vanessa Tyrrell, Meera Warby, Andrew Wood, David S Ziegler, Carolyn Johnston, Camron Ebzery, Noemi Fuentes Bolanos, Andrew J Gifford, Hazel Harden, Sarah Josephi-Taylor, Rishi S Kotecha, Marion K Mateos
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  355.24
 
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Tác giả: Elan Hahn, Avinash V Dharmadhikari, Matthew A Deardorff, Jaclyn A Biegel, Xiaowu Gai, Miao Sun, Ryan J Schmidt, Gordana Raca, Jianling Ji, Alexander L Markowitz, Dolores Estrine, Catherine Quindipan, Simran D S Maggo, Ankit Sharma, Brian Lee, Dennis T Maglinte, Soheil Shams
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  616.07543
 
Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplant...
Tác giả: Lu Jiang, Zhuoyao Mai, Nengyong Ouyang, Chao Chen, Ping Yuan, Jiguang Peng, Tao Du, Weifeng Wang, Xiran Chen, Chen Jiang, Yantao Luo, Hui Chen, Lijie Song
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  171.8
 
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height
Tác giả: A Papadopoulou, E M Litkowski, W Zhu, S L Vedantam, L Yengo, A R Wood, S I Berndt, I A Holm, F D Mentch, H Hakonarson, K Kiryluk, C Weng, M Graff, G P Jarvik, D Crosslin, D Carrell, I J Kullo, O Dikilitas, M G Hayes, W -Q Wei, D R V Edwards, T L Assimes, J N Hirschhorn, Z Wang, J E Below, C R Gignoux, A E Justice, R J F Loos, Y V Sun, S Raghavan, P Deloukas, K E North, E Marouli, R A J Smit, G Chittoor, I Dinsmore, N S Josyula, M Lin, J Shortt
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
 
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in...
Tác giả: Katherine B Howell, Susan M White, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H Beggs, Lyn S Chitty, Ronald D Cohn, Christian R Marshall, Nancy C Andrews, Kathryn N North, Amy McTague, J Helen Cross, John Christodoulou, Stephen W Scherer, Alissa M D'Gama, Gregory Costain, Annapurna Poduri, Ingrid E Scheffer, Vann Chau, Lindsay D Smith, Sarah E M Stephenson
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  328.22
 
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics
Tác giả: Guang Yang, Pablo González, Abiel Roche-Lima, Cristina Alarcon, Marylyn D Ritchie, Minoli A Perera, Jorge Duconge, Mariangeli Moneró, Kelvin Carrasquillo, Jessicca Y Renta, Dagmar F Hernandez-Suarez, Mariana R Botton, Kyle Melin, Stuart A Scott, Gualberto Ruaño
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  571.9646
 
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
Tác giả: Lieselot Vincke, Kristof Van Schil, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Hamid Ahmadieh, Elfride De Baere, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  616.851
 
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis
Tác giả: Qian Sun, Peiwen Xu, Dayong Si, Junhao Yan, Zi-Jiang Chen, Xuan Gao, Yuan Gao, Aiping Mao, Sexin Huang, Jie Li, Libao Chen, Jing Li, Haopeng Kan, Ju Huang, Wenkai Ji
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  616.07543
 
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome
Tác giả: Hui-Zi Chen, Na Hyun Kim, Daisuke Nishizaki, Mary K Nesline, Jeffrey M Conroy, Paul DePietro, Sarabjot Pabla, Shumei Kato, Razelle Kurzrock
Xuất bản: England: NPJ genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  615.37
 
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