未登录 Genealogy-based trait association with LOCATER boosts power at loci with allelic heterogeneity 基于系谱的性状关联结合LOCATER在等位基因异质性位点提高统计功效 Wang, Xinxin; Christ, Ryan; Young, Erica; Kang, Chul Joo; Das, Indraniel; Belter Jr, Edward A.; Laakso, Markku; Aslett, Louis J. M.; Steinsaltz, David; Stitziel, Nathan O.; Hall, Ira M. 分享 收藏
Comparison of variant callers using 60 532 multi-ancestry whole genome sequences 比较不同变异调用器在60532例多祖先全基因组序列中的应用 Zhou, Hufeng; Li, Zilin; Shyr, Derek; Li, Xihao; Yang, Haoyu; Dey, Rounak; Tang, Yushi; Maier, Robert; Boerwinkle, Eric; Buyske, Steve; Daly, Mark; Felsenfeld, Adam; Gibbs, Richard A.; Gupta, Namrata; Hall, Ira M.; Matise, Tara; Metcalf, Ginger A.; Smith, Albert; Reeves, Catherine; Sofia, Heidi J.; Stitziel, Nathan O.; Zody, Michael C.; Neale, Benjamin; Lin, Xihong 分享 收藏
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Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies Shyr, Derek; Dey, Rounak; Li, Xihao; Zhou, Hufeng; Boerwinkle, Eric; Buyske, Steve; Daly, Mark; Gibbs, Richard A.; Hall, Ira; Matise, Tara; Reeves, Catherine; Stitziel, Nathan O.; Zody, Michael; Neale, Benjamin M.; Lin, Xihong 分享 收藏
Single Cell Transcriptional And Epigenetic Map Of Human Coronary Artery Disease In A Multi-ethnic Population Amrute, Junedh M.; Lee, Paul; Eres, Ittai; Bredemeyer, Andrea; Yamawaki, Tracy; Kang, Chul Joo; Lee, Mick J.; Gurung, Rijan; Li, Daniel; Zhao, Quanyi; Sheth, Maya; Tan, Anthony; Gschwind, Andreas; Cheng, Paul; Jackson, Simon; Hsu, Yi-Hsiang; Foo, Roger; Hall, Ira; Gupta, Rajat M.; Engreitz, Jesse; Li, Chi-Ming; Quertermous, Thomas; Ason, Brandon; Lavine, Kory J.; Stitziel, Nathan O. 分享 收藏
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification 全基因组测序揭示了冠状动脉钙化的两个基因座，并将ARSE鉴定为血管钙化的调节剂 de Vries, Paul S.; Conomos, Matthew P.; Singh, Kuldeep; Nicholson, Christopher J.; Jain, Deepti; Hasbani, Natalie R.; Jiang, Wanlin; Lee, Sujin; Lino Cardenas, Christian L.; Lutz, Sharon M.; Wong, Doris; Guo, Xiuqing; Yao, Jie; Young, Erica P.; Tcheandjieu, Catherine; Hilliard, Austin T.; Bis, Joshua C.; Bielak, Lawrence F.; Brown, Michael R.; Musharoff, Shaila; Clarke, Shoa L.; Terry, James G.; Palmer, Nicholette D.; Yanek, Lisa R.; Xu, Huichun; Heard-Costa, Nancy; Wessel, Jennifer; Selvaraj, Margaret Sunitha; Li, Rebecca H.; Sun, Xiao; Turner, Adam W.; Stilp, Adrienne M.; Khan, Alyna; Newman, Anne B.; Rasheed, Asif; Freedman, Barry I.; Kral, Brian G.; McHugh, Caitlin P.; Hodonsky, Chani; Saleheen, Danish; Herrington, David M.; Jacobs, David R., Jr.; Nickerson, Deborah A.; Boerwinkle, Eric; Wang, Fei Fei; Heiss, Gerardo; Jun, Goo; Kinney, Greg L.; Sigurslid, Haakon H.; Doddapaneni, Harshavardhan; Hall, Ira M.; Bensenor, Isabela M.; Broome, Jai; Crapo, James D.; Wilson, James G.; Smith, Jennifer A.; Blangero, John; Vargas, Jose D.; Mosquera, Jose Verdezoto; Smith, Joshua D.; Viaud-Martinez, Karine A.; Ryan, Kathleen A.; Young, Kendra A.; Taylor, Kent D.; Lange, Leslie A.; Emery, Leslie S.; Bittencourt, Marcio S.; Budoff, Matthew J.; Montasser, May E.; Yu, Miao; Mahaney, Michael C.; Mahamdeh, Mohammed S.; Fornage, Myriam; Franceschini, Nora; Lotufo, Paulo A.; Natarajan, Pradeep; Wong, Quenna; Mathias, Rasika A.; Gibbs, Richard A.; Do, Ron; Mehran, Roxana; Tracy, Russell P.; Kim, Ryan W.; Nelson, Sarah C.; Damrauer, Scott M.; Kardia, Sharon L. R.; Rich, Stephen S.; Fuster, Valentin; Napolioni, Valerio; Zhao, Wei; Tian, Wenjie; Yin, Xianyong; Min, Yuan-, I; Manning, Alisa K.; Peloso, Gina; Kelly, Tanika N.; O'Donnell, Christopher J.; Morrison, Alanna C.; Curran, Joanne E.; Zapol, Warren M.; Bowden, Donald W.; Becker, Lewis C.; Correa, Adolfo; Mitchell, Braxton D.; Psaty, Bruce M.; Carr, John Jeffrey; Pereira, Alexandre C.; Assimes, Themistocles L.; Stitziel, Nathan O.; Hokanson, John E.; Laurie, Cecelia A.; Rotter, Jerome I.; Vasan, Ramachandran S.; Post, Wendy S.; Peyser, Patricia A.; Miller, Clint L.; Malhotra, Rajeev 分享 收藏
Pangenome graph construction from genome alignments with Minigraph-Cactus 用minigrap-cactus从基因组比对构建Pangenome图 Hickey, Glenn; Monlong, Jean; Ebler, Jana; Novak, Adam M.; Eizenga, Jordan M.; Gao, Yan; Marschall, Tobias; Li, Heng; Paten, Benedict; Abel, Haley J.; Antonacci-Fulton, Lucinda L.; Asri, Mobin; Baid, Gunjan; Baker, Carl A.; Belyaeva, Anastasiya; Billis, Konstantinos; Bourque, Guillaume; Buonaiuto, Silvia; Carroll, Andrew; Chaisson, Mark J. P.; Chang, Pi-Chuan; Chang, Xian H.; Cheng, Haoyu; Chu, Justin; Cody, Sarah; Colonna, Vincenza; Cook, Daniel E.; Cook-Deegan, Robert M.; Cornejo, Omar E.; Diekhans, Mark; Doerr, Daniel; Ebert, Peter; Ebler, Jana; Eichler, Evan E.; Eizenga, Jordan M.; Fairley, Susan; Fedrigo, Olivier; Felsenfeld, Adam L.; Feng, Xiaowen; Fischer, Christian; Flicek, Paul; Formenti, Giulio; Frankish, Adam; Fulton, Robert S.; Gao, Yan; Garg, Shilpa; Garrison, Erik; Garrison, Nanibaa' A.; Giron, Carlos Garcia; Green, Richard E.; Groza, Cristian; Guarracino, Andrea; Haggerty, Leanne; Hall, Ira M.; Harvey, William T.; Haukness, Marina; Haussler, David; Heumos, Simon; Hickey, Glenn; Hoekzema, Kendra; Hourlier, Thibaut; Howe, Kerstin; Jain, Miten; Jarvis, Erich D.; Ji, Hanlee P.; Kenny, Eimear E.; Koenig, Barbara A.; Kolesnikov, Alexey; Korbel, Jan O.; Kordosky, Jennifer; Koren, Sergey; Lee, HoJoon; Lewis, Alexandra P.; Liao, Wen-Wei; Lu, Shuangjia; Lu, Tsung-Yu; Lucas, Julian K.; Hugo, Magalhaes; Santiago, Marco-Sola; Marijon, Pierre; Markello, Charles; Marschall, Tobias; Martin, Fergal J.; McCartney, Ann; McDaniel, Jennifer; Miga, Karen H.; Mitchell, Matthew W.; Monlong, Jean; Mountcastle, Jacquelyn; Munson, Katherine M.; Mwaniki, Moses Njagi; Nattestad, Maria; Novak, Adam M.; Nurk, Sergey; Olsen, Hugh E.; Olson, Nathan D.; Pesout, Trevor; Phillippy, Adam M.; Popejoy, Alice B.; Porubsky, David; Prins, Pjotr; Puiu, Daniela; Rautiainen, Mikko; Regier, Allison A.; Rhie, Arang; Sacco, Samuel; Sanders, Ashley D.; Schneider, Valerie A.; Schultz, Baergen, I; Shafin, Kishwar; Sibbesen, Jonas A.; Siren, Jouni; Smith, Michael W.; Sofia, Heidi J.; Abou Tayoun, Ahmad N.; Thibaud-Nissen, Francoise; Tomlinson, Chad; Tricomi, Francesca Floriana; Villani, Flavia; Vollger, Mitchell R.; Wagner, Justin; Walenz, Brian; Wang, Ting; Wood, Jonathan M. D.; Zimin, Aleksey, V; Zook, Justin M. 分享 收藏
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk 整合转录组学、代谢组学和gw有助于揭示代谢物水平和疾病风险的分子机制 Yin, Xianyong; Bose, Debraj; Kwon, Annie; Hanks, Sarah C.; Jackson, Anne U.; Stringham, Heather M.; Welch, Ryan; Oravilahti, Anniina; Silva, Lilian Fernandes; Locke, FinnGen Adam E.; Fuchsberger, Christian; Service, Susan K.; Erdos, Michael R.; Bonnycastle, Lori L.; Kuusisto, Johanna; Stitziel, Nathan O.; Hall, Ira M.; Morrison, Jean; Ripatti, Samuli; Palotie, Aarno; Freimer, Nelson B.; Collins, Francis S.; Mohlke, Karen L.; Scott, Laura J.; Fauman, Eric B.; Burant, Charles; Boehnke, Michael; Laakso, Markku; Wen, Xiaoquan 分享 收藏
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci 芬兰男性代谢物的全基因组关联研究确定了与疾病相关的基因座 Yin, Xianyong; Chan, Lap Sum; Bose, Debraj; Jackson, Anne U.; VandeHaar, Peter; Locke, Adam E.; Fuchsberger, Christian; Stringham, Heather M.; Welch, Ryan; Yu, Ketian; Silva, Lilian Fernandes; Service, Susan K.; Zhang, Daiwei; Hector, Emily C.; Young, Erica; Ganel, Liron; Das, Indraniel; Abel, Haley; Erdos, Michael R.; Bonnycastle, Lori L.; Kuusisto, Johanna; Stitziel, Nathan O.; Hall, Ira M.; Wagner, Gregory R.; Kang, Jian; Morrison, Jean; Burant, Charles F.; Collins, Francis S.; Ripatti, Samuli; Palotie, Aarno; Freimer, Nelson B.; Mohlke, Karen L.; Scott, Laura J.; Wen, Xiaoquan; Fauman, Eric B.; Laakso, Markku; Boehnke, Michael 分享 收藏
Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis Visualization, and Informatics Lab-space 利用NHGRI基因组数据科学分析可视化和信息学实验室空间反转基因组学数据共享模型 Schatz, Michael C.; Philippakis, Anthony A.; Afgan, Enis; Banks, Eric; Carey, Vincent J.; Carroll, Robert J.; Culotti, Alessandro; Ellrott, Kyle; Goecks, Jeremy; Grossman, Robert L.; Hall, Ira M.; Hansen, Kasper D.; Lawson, Jonathan; Leek, Jeffrey T.; Luria, Anne O'Donnell; Mosher, Stephen; Morgan, Martin; Nekrutenko, Anton; O'Connor, Brian D.; Osborn, Kevin; Paten, Benedict; Patterson, Candace; Tan, Frederick J.; Taylor, Casey Overby; Vessio, Jennifer; Waldron, Levi; Wang, Ting; Wuichet, Kristin 分享 收藏
GENOME-WIDE ASSOCIATION STUDY OF SURVIVAL TIMES AFTER DIAGNOSIS OF IDIOPATHIC PULMONARY FIBROSIS Allen, R. J.; Oldham, J. M.; Lorenzo-Salazar, J. M.; Molyneaux, P. L.; Ma, S. F.; Stockwell, A.; Joseph, C.; Kim, J. S.; Guillen-Guio, B.; Hernandez-Beeftink, T.; Kropski, J.; Huang, Y.; Lee, C. T.; Adegunsoye, A.; Pugashetti, J. V.; Linderholm, A.; Vo, V.; Strek, M.; Hubbard, R.; Hirani, N.; Whyte, M. K. B.; Hart, S.; Nicholson, A.; Parfrey, H.; Rassl, D.; Wallace, W.; Fahy, W. A.; Valenzi, E.; Zhang, Y.; Kaminski, N.; Wolters, P.; Molina-Molina, M.; Martinez, F. J.; Hall, I.; Tobin, M. D.; Maher, T. M.; Blackwell, T.; Yaspan, B.; Jenkins, R. G.; Flores, C.; Wain, L. V.; Noth, I. 分享 收藏
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Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences Ganel, Liron; Chen, Lei; Christ, Ryan; Vangipurapu, Jagadish; Young, Erica; Das, Indraniel; Kanchi, Krishna; Larson, David; Regier, Allison; Abel, Haley; Kang, Chul Joo; Scott, Alexandra; Havulinna, Aki; Chiang, Charleston W. K.; Service, Susan; Freimer, Nelson; Palotie, Aarno; Ripatti, Samuli; Kuusisto, Johanna; Boehnke, Michael; Laakso, Markku; Locke, Adam; Stitziel, Nathan O.; Hall, Ira M. 分享 收藏
Association of structural variation with cardiometabolic traits in Finns Chen, Lei; Abel, Haley J.; Das, Indraniel; Larson, David E.; Ganel, Liron; Kanchi, Krishna L.; Regier, Allison A.; Young, Erica P.; Kang, Chul Joo; Scott, Alexandra J.; Chiang, Colby; Wang, Xinxin; Lu, Shuangjia; Christ, Ryan; Service, Susan K.; Chiang, Charleston W. K.; Havulinna, Aki S.; Kuusisto, Johanna; Boehnke, Michael; Laakso, Markku; Palotie, Aarno; Ripatti, Samuli; Freimer, Nelson B.; Locke, Adam E.; Stitziel, Nathan O.; Hall, Ira M. 分享 收藏
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants Saarentaus, Elmo Christian; Havulinna, Aki Samuli; Mars, Nina; Ahola-Olli, Ari; Kiiskinen, Tuomo Tapio Johannes; Partanen, Juulia; Ruotsalainen, Sanni; Kurki, Mitja; Urpa, Lea Martta; Chen, Lei; Perola, Markus; Salomaa, Veikko; Veijola, Juha; Mannikko, Minna; Hall, Ira M.; Pietilainen, Olli; Kaprio, Jaakko; Ripatti, Samuli; Daly, Mark; Palotie, Aarno 分享 收藏
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects Regier, Allison A.; Farjoun, Yossi; Larson, David E.; Krasheninina, Olga; Kang, Hyun Min; Howrigan, Daniel P.; Chen, Bo-Juen; Kher, Manisha; Banks, Eric; Ames, Darren C.; English, Adam C.; Li, Heng; Xing, Jinchuan; Zhang, Yeting; Matise, Tara; Abecasis, Goncalo R.; Salerno, Will; Zody, Michael C.; Neale, Benjamin M.; Hall, Ira M. 分享 收藏
The impact of structural variation on human gene expression 结构变异对人类基因表达的影响 Chiang, Colby; Scott, Alexandra J.; Davis, Joe R.; Tsang, Emily K.; Li, Xin; Kim, Yungil; Hadzic, Tarik; Damani, Farhan N.; Ganel, Liron; Montgomery, Stephen B.; Battle, Alexis; Conrad, Donald F.; Hall, Ira M. 分享 收藏
The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning Hazen, Jennifer L.; Faust, Gregory G.; Rodriguez, Alberto R.; Ferguson, William C.; Shumilina, Svetlana; Clark, Royden A.; Boland, Michael J.; Martin, Greg; Chubukov, Pavel; Tsunemoto, Rachel K.; Torkamani, Ali; Kupriyanov, Sergey; Hall, Ira M.; Baldwin, Kristin K. 分享 收藏
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