未登录 Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery 基于蛋白质组学信息的大型语言模型的变异分类增加了稀有变异关联研究的功效并增强了靶点发现 Gillies, Christopher E.; Mbatchou, Joelle; Habegger, Lukas; Kessler, Michael D.; Bao, Suying; Balasubramanian, Suganthi; Delaneau, Olivier; Kosmicki, Jack A.; Willer, Cristen J.; Kang, Hyun Min; Baras, Aris; Reid, Jeffrey G.; Marchini, Jonathan; Abecasis, Goncalo R.; Ghoussaini, Maya 分享 收藏
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Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank 英国生物库中来自基因组,外显子组和插补的遗传关联信号的产量 Gaynor, Sheila M.; Joseph, Tyler; Bai, Xiaodong; Zou, Yuxin; Boutkov, Boris; Maxwell, Evan K.; Delaneau, Olivier; Hofmeister, Robin J.; Krasheninina, Olga; Balasubramanian, Suganthi; Marcketta, Anthony; Backman, Joshua; Reid, Jeffrey G.; Overton, John D.; Lotta, Luca A.; Marchini, Jonathan; Salerno, William J.; Baras, Aris; Abecasis, Goncalo R.; Thornton, Timothy A. 分享 收藏
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The HLA-B*57:01 allele corresponds to a very large MHC haploblock likely explaining its massive effect for HIV-1 elite control Rahmouni, Myriam; De Marco, Lorenzo; Spadoni, Jean-Louis; Tison, Maxime; Medina-Santos, Raissa; Labib, Taoufik; Noirel, Josselin; Tamouza, Ryad; Limou, Sophie; Delaneau, Olivier; Fellay, Jacques; Bensussan, Armand; Le Clerc, Sigrid; McLaren, Paul J.; Zagury, Jean-Francois 分享 收藏
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Imputation of ancient human genomes Sousa da Mota, Barbara; Rubinacci, Simone; Cruz Davalos, Diana Ivette; Amorim, Carlos Eduardo G.; Sikora, Martin; Johannsen, Niels N.; Szmyt, Marzena H.; Wlodarczak, Piotr; Szczepanek, Anita; Przybyla, Marcin M.; Schroeder, Hannes; Allentoft, Morten E.; Willerslev, Eske; Malaspinas, Anna-Sapfo; Delaneau, Olivier 分享 收藏
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Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks Appadurai, Vivek; Bybjerg-Grauholm, Jonas; Krebs, Morten Dybdahl; Rosengren, Anders; Buil, Alfonso; Ingason, Andres; Mors, Ole; Borglum, Anders D.; Hougaard, David M.; Nordentoft, Merete; Mortensen, Preben B.; Delaneau, Olivier; Werge, Thomas; Schork, Andrew J. 分享 收藏
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Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy Parikh, Victoria N.; Ioannidis, Alexander G.; Jimenez-Morales, David; Gorzynski, John E.; De Jong, Hannah N.; Liu, Xiran; Roque, Jonasel; Cepeda-Espinoza, Victoria P.; Osoegawa, Kazutoyo; Hughes, Chris; Sutton, Shirley C.; Youlton, Nathan; Joshi, Ruchi; Amar, David; Tanigawa, Yosuke; Russo, Douglas; Wong, Justin; Lauzon, Jessie T.; Edelson, Jacob; Montserrat, Daniel Mas; Kwon, Yongchan; Rubinacci, Simone; Delaneau, Olivier; Cappello, Lorenzo; Kim, Jaehee; Shoura, Massa J.; Raja, Archana N.; Watson, Nathaniel; Hammond, Nathan; Spiteri, Elizabeth; Mallempati, Kalyan C.; Montero-Martin, Gonzalo; Christle, Jeffrey; Kim, Jennifer; Kirillova, Anna; Seo, Kinya; Huang, Yong; Zhao, Chunli; Moreno-Grau, Sonia; Hershman, Steven G.; Dalton, Karen P.; Zhen, Jimmy; Kamm, Jack; Bhatt, Karan D.; Isakova, Alina; Morri, Maurizio; Ranganath, Thanmayi; Blish, Catherine A.; Rogers, Angela J.; Nadeau, Kari; Yang, Samuel; Blomkalns, Andra; O'Hara, Ruth; Neff, Norma F.; DeBoever, Christopher; Szalma, Sandor; Wheeler, Matthew T.; Gates, Christian M.; Farh, Kyle; Schroth, Gary P.; Febbo, Phil; DeSouza, Francis; Cornejo, Omar E.; Fernandez-Vina, Marcelo; Kistler, Amy; Palacios, Julia A.; Pinsky, Benjamin A.; Bustamante, Carlos D.; Rivas, Manuel A.; Ashley, Euan A. 分享 收藏
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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing Valls-Margarit, Jordi; Galvan-Femenia, Ivan; Matias-Sanchez, Daniel; Blay, Natalia; Puiggros, Montserrat; Carreras, Anna; Salvoro, Cecilia; Cortes, Beatriz; Amela, Ramon; Farre, Xavier; Lerga-Jaso, Jon; Puig, Marta; Sanchez-Herrero, Jose Francisco; Moreno, Victor; Perucho, Manuel; Sumoy, Lauro; Armengol, Lluis; Delaneau, Olivier; Caceres, Mario; de Cid, Rafael; Torrents, David 分享 收藏
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome 差异表达的基因反映了转录组中疾病诱导的而不是疾病引起的变化 Porcu, Eleonora; Sadler, Marie C.; Lepik, Kaido; Auwerx, Chiara; Wood, Andrew R.; Weihs, Antoine; Sleiman, Maroun S. Bou; Ribeiro, Diogo M.; Bandinelli, Stefania; Tanaka, Toshiko; Nauck, Matthias; Volker, Uwe; Delaneau, Olivier; Metspalu, Andres; Teumer, Alexander; Frayling, Timothy; Santoni, Federico A.; Reymond, Alexandre; Kutalik, Zoltan 分享 收藏
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Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studies Carmeli, Cristian; Kutalik, Zoltan; Mishra, Pashupati P.; Porcu, Eleonora; Delpierre, Cyrille; Delaneau, Olivier; Kelly-Irving, Michelle; Bochud, Murielle; Dhayat, Nasser A.; Ponte, Belen; Pruijm, Menno; Ehret, Georg; Kaehoenen, Mika; Lehtimaeki, Terho; Raitakari, Olli T.; Vineis, Paolo; Kivimaeki, Mika; Chadeau-Hyam, Marc; Dermitzakis, Emmanouil; Vuilleumier, Nicolas; Stringhini, Silvia 分享 收藏