未登录 FixItFelix: improving genomic analysis by fixing reference errors Behera, Sairam; LeFaive, Jonathon; Orchard, Peter; Mahmoud, Medhat; Paulin, Luis F.; Farek, Jesse; Soto, Daniela C.; Parker, Stephen C. J.; Smith, Albert V.; Dennis, Megan Y.; Zook, Justin M.; Sedlazeck, Fritz J. 分享 收藏
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments Farek, Jesse; Hughes, Daniel; Salerno, William; Zhu, Yiming; Pisupati, Aishwarya; Mansfield, Adam; Krasheninina, Olga; English, Adam C.; Metcalf, Ginger; Boerwinkle, Eric; Muzny, Donna M.; Gibbs, Richard; Khan, Ziad; Sedlazeck, Fritz J. 分享 收藏
Benchmarking challenging small variants with linked and long reads 具有链接和长读取的具有挑战性的小变体的基准测试 Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; Khan, Ziad; Farek, Jesse; Mahmoud, Medhat; Stankovic, Ana; Kovacevic, Vladimir; Yoo, Byunggil; Miller, Neil; Rosenfeld, Jeffrey A.; Ni, Bohan; Zarate, Samantha; Kirsche, Melanie; Aganezov, Sergey; Schatz, Michael C.; Narzisi, Giuseppe; Byrska-Bishop, Marta; Clarke, Wayne; Evani, Uday S.; Markello, Charles; Shafin, Kishwar; Zhou, Xin; Sidow, Arend; Bansal, Vikas; Ebert, Peter; Marschall, Tobias; Lansdorp, Peter; Hanlon, Vincent; Mattsson, Carl-Adam; Barrio, Alvaro Martinez; Fiddes, Ian T.; Xiao, Chunlin; Fungtammasan, Arkarachai; Chin, Chen-Shan; Wenger, Aaron M.; Rowell, William J.; Sedlazeck, Fritz J.; Carroll, Andrew; Salit, Marc; Zook, Justin M. 分享 收藏
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data 从全基因组序列数据评估罕见变异对复杂性状遗传力的贡献 Wainschtein, Pierrick; Jain, Deepti; Zheng, Zhili; Cupples, L. Adrienne; Shadyab, Aladdin H.; McKnight, Barbara; Shoemaker, Benjamin M.; Mitchell, Braxton D.; Psaty, Bruce M.; Kooperberg, Charles; Liu, Ching-Ti; Albert, Christine M.; Roden, Dan; Chasman, Daniel, I; Darbar, Dawood; Lloyd-Jones, Donald M.; Arnett, Donna K.; Regan, Elizabeth A.; Boerwinkle, Eric; Rotter, Jerome, I; O'Connell, Jeffrey R.; Yanek, Lisa R.; de Andrade, Mariza; Allison, Matthew A.; Mcdonald, Merry-Lynn N.; Chung, Mina K.; Fornage, Myriam; Chami, Nathalie; Smith, Nicholas L.; Ellinor, Patrick T.; Vasan, Ramachandran S.; Mathias, Rasika A.; Loos, Ruth J. F.; Rich, Stephen S.; Lubitz, Steven A.; Heckbert, Susan R.; Redline, Susan; Guo, Xiuqing; Chen, Y-D Ida; Laurie, Cecelia A.; Hernandez, Ryan D.; McGarvey, Stephen T.; Goddard, Michael E.; Laurie, Cathy C.; North, Kari E.; Lange, Leslie A.; Weir, Bruce S.; Yengo, Loic; Yang, Jian; Visscher, Peter M. 分享 收藏
Curated variation benchmarks for challenging medically relevant autosomal genes 具有挑战性的医学相关常染色体基因的策划变异基准 Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M.; Rowell, William J.; Khan, Ziad M.; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E.; Jaspez, David; Lorenzo-Salazar, Jose M.; Munoz-Barrera, Adrian; Rubio-Rodriguez, Luis A.; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E.; Lee, Joyce; Mason, Christopher E.; Lincoln, Stephen E.; Miga, Karen H.; Ebbert, Mark T. W.; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M.; Sedlazeck, Fritz J. 分享 收藏
Exome variant discrepancies due to reference-genome differences Li, He; Dawood, Moez; Khayat, Michael M.; Farek, Jesse R.; Jhangiani, Shalini N.; Khan, Ziad M.; Mitani, Tadahiro; Coban-Akdemir, Zeynep; Lupski, James R.; Venner, Eric; Posey, Jennifer E.; Sabo, Aniko; Gibbs, Richard A. 分享 收藏
A diploid assembly-based benchmark for variants in the major histocompatibility complex Chin, Chen-Shan; Wagner, Justin; Zeng, Qiandong; Garrison, Erik; Garg, Shilpa; Fungtammasan, Arkarachai; Rautiainen, Mikko; Aganezov, Sergey; Kirsche, Melanie; Zarate, Samantha; Schatz, Michael C.; Xiao, Chunlin; Rowell, William J.; Markello, Charles; Farek, Jesse; Sedlazeck, Fritz J.; Bansal, Vikas; Yoo, Byunggil; Miller, Neil; Zhou, Xin; Carroll, Andrew; Barrio, Alvaro Martinez; Salit, Marc; Marschall, Tobias; Dilthey, Alexander T.; Zook, Justin M. 分享 收藏
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