Canlyniadau Chwilio - Chang, Pi-Chuan

Deep learning of genomic variation and regulatory network data gan Telenti, Amalio, Lippert, Christoph, Chang, Pi-Chuan, DePristo, Mark

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Accurate, scalable cohort variant calls using DeepVariant and GLnexus gan Yun, Taedong, Li, Helen, Chang, Pi-Chuan, Lin, Michael F, Carroll, Andrew, McLean, Cory Y

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A complete pedigree-based graph workflow for rare candidate variant analysis gan Markello, Charles, Huang, Charles, Rodriguez, Alex, Carroll, Andrew, Chang, Pi-Chuan, Eizenga, Jordan, Markello, Thomas, Haussler, David, Paten, Benedict

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Comparison of GATK and DeepVariant by trio sequencing gan Lin, Yi-Lin, Chang, Pi-Chuan, Hsu, Ching, Hung, Miao-Zi, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lai, FeiPei, Lee, Ni-Chung

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Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads gan Shafin, Kishwar, Pesout, Trevor, Chang, Pi-Chuan, Nattestad, Maria, Kolesnikov, Alexey, Goel, Sidharth, Baid, Gunjan, Kolmogorov, Mikhail, Eizenga, Jordan M., Miga, Karen H., Carnevali, Paolo, Jain, Miten, Carroll, Andrew, Paten, Benedict

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A population-specific reference panel for improved genotype imputation in African Americans gan O’Connell, Jared, Yun, Taedong, Moreno, Meghan, Li, Helen, Litterman, Nadia, Kolesnikov, Alexey, Noblin, Elizabeth, Chang, Pi-Chuan, Shastri, Anjali, Dorfman, Elizabeth H., Shringarpure, Suyash, Auton, Adam, Carroll, Andrew, McLean, Cory Y.

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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome gan Wenger, Aaron M., Peluso, Paul, Rowell, William J., Chang, Pi-Chuan, Hall, Richard J., Concepcion, Gregory T., Ebler, Jana, Fungtammasan, Arkarachai, Kolesnikov, Alexey, Olson, Nathan D., Töpfer, Armin, Alonge, Michael, Mahmoud, Medhat, Qian, Yufeng, Chin, Chen-Shan, Phillippy, Adam M., Schatz, Michael C., Myers, Gene, DePristo, Mark A., Ruan, Jue, Marschall, Tobias, Sedlazeck, Fritz J., Zook, Justin M., Li, Heng, Koren, Sergey, Carroll, Andrew, Rank, David R., Hunkapiller, Michael W.

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Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing gan Goenka, Sneha D., Gorzynski, John E., Shafin, Kishwar, Fisk, Dianna G., Pesout, Trevor, Jensen, Tanner D., Monlong, Jean, Chang, Pi-Chuan, Baid, Gunjan, Bernstein, Jonathan A., Christle, Jeffrey W., Dalton, Karen P., Garalde, Daniel R., Grove, Megan E., Guillory, Joseph, Kolesnikov, Alexey, Nattestad, Maria, Ruzhnikov, Maura R. Z., Samadi, Mehrzad, Sethia, Ankit, Spiteri, Elizabeth, Wright, Christopher J., Xiong, Katherine, Zhu, Tong, Jain, Miten, Sedlazeck, Fritz J., Carroll, Andrew, Paten, Benedict, Ashley, Euan A.

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PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions gan Olson, Nathan D., Wagner, Justin, McDaniel, Jennifer, Stephens, Sarah H., Westreich, Samuel T., Prasanna, Anish G., Johanson, Elaine, Boja, Emily, Maier, Ezekiel J., Serang, Omar, Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Kyriakidis, Konstantinos, Malousi, Andigoni, Shafin, Kishwar, Pesout, Trevor, Jain, Miten, Paten, Benedict, Chang, Pi-Chuan, Kolesnikov, Alexey, Nattestad, Maria, Baid, Gunjan, Goel, Sidharth, Yang, Howard, Carroll, Andrew, Eveleigh, Robert, Bourgey, Mathieu, Bourque, Guillaume, Li, Gen, Ma, ChouXian, Tang, LinQi, Du, YuanPing, Zhang, ShaoWei, Morata, Jordi, Tonda, Raúl, Parra, Genís, Trotta, Jean-Rémi, Brueffer, Christian, Demirkaya-Budak, Sinem, Kabakci-Zorlu, Duygu, Turgut, Deniz, Kalay, Özem, Budak, Gungor, Narcı, Kübra, Arslan, Elif, Brown, Richard, Johnson, Ivan J., Dolgoborodov, Alexey, Semenyuk, Vladimir, Jain, Amit, Tetikol, H. Serhat, Jain, Varun, Ruehle, Mike, Lajoie, Bryan, Roddey, Cooper, Catreux, Severine, Mehio, Rami, Ahsan, Mian Umair, Liu, Qian, Wang, Kai, Ebrahim Sahraeian, Sayed Mohammad, Fang, Li Tai, Mohiyuddin, Marghoob, Hung, Calvin, Jain, Chirag, Feng, Hanying, Li, Zhipan, Chen, Luoqi, Sedlazeck, Fritz J., Zook, Justin M.

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