PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

por English, Adam C, Salerno, William J, Reid, Jeffrey G
Publicado 2014

Sparse Project VCF: efficient encoding of population genotype matrices

por Lin, Michael F, Bai, Xiaodong, Salerno, William J, Reid, Jeffrey G
Publicado 2020

Parliament2: Accurate structural variant calling at scale

por Zarate, Samantha, Carroll, Andrew, Mahmoud, Medhat, Krasheninina, Olga, Jun, Goo, Salerno, William J, Schatz, Michael C, Boerwinkle, Eric, Gibbs, Richard A, Sedlazeck, Fritz J
Publicado 2020

Optimized sample selection for cost-efficient long-read population sequencing

por Ranallo-Benavidez, T. Rhyker, Lemmon, Zachary, Soyk, Sebastian, Aganezov, Sergey, Salerno, William J., McCoy, Rajiv C., Lippman, Zachary B., Schatz, Michael C., Sedlazeck, Fritz J.
Publicado 2021

VCPA: genomic variant calling pipeline and data management tool for Alzheimer’s Disease Sequencing Project

por Leung, Yuk Yee, Valladares, Otto, Chou, Yi-Fan, Lin, Han-Jen, Kuzma, Amanda B, Cantwell, Laura, Qu, Liming, Gangadharan, Prabhakaran, Salerno, William J, Schellenberg, Gerard D, Wang, Li-San
Publicado 2019

VCPA: genomic variant calling pipeline and data management tool for Alzheimer’s Disease Sequencing Project

por Leung, Yuk Yee, Valladares, Otto, Chou, Yi-Fan, Lin, Han-Jen, Kuzma, Amanda B, Cantwell, Laura, Qu, Liming, Gangadharan, Prabhakaran, Salerno, William J, Schellenberg, Gerard D, Wang, Li-San
Publicado 2019

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

por Hampton, Oliver A., English, Adam C., Wang, Mark, Salerno, William J., Liu, Yue, Muzny, Donna M., Han, Yi, Wheeler, David A., Worley, Kim C., Lupski, James R., Gibbs, Richard A.
Publicado 2017

Mapping and characterization of structural variation in 17,795 human genomes

por Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.
Publicado 2020

Assessing structural variation in a personal genome—towards a human reference diploid genome

por English, Adam C, Salerno, William J, Hampton, Oliver A, Gonzaga-Jauregui, Claudia, Ambreth, Shruthi, Ritter, Deborah I, Beck, Christine R, Davis, Caleb F, Dahdouli, Mahmoud, Ma, Singer, Carroll, Andrew, Veeraraghavan, Narayanan, Bruestle, Jeremy, Drees, Becky, Hastie, Alex, Lam, Ernest T, White, Simon, Mishra, Pamela, Wang, Min, Han, Yi, Zhang, Feng, Stankiewicz, Pawel, Wheeler, David A, Reid, Jeffrey G, Muzny, Donna M, Rogers, Jeffrey, Sabo, Aniko, Worley, Kim C, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A
Publicado 2015

Exome sequencing and analysis of 454,787 UK Biobank participants

por Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Publicado 2021

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

por Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris
Publicado 2020

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

por Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Publicado 2022

Structural variation across 138,134 samples in the TOPMed consortium

por Jun, Goo, English, Adam C, Metcalf, Ginger A, Yang, Jianzhi, Chaisson, Mark JP, Pankratz, Nathan, Menon, Vipin K, Salerno, William J, Krasheninina, Olga, Smith, Albert V, Lane, John A, Blackwell, Tom, Kang, Hyun Min, Salvi, Sejal, Meng, Qingchang, Shen, Hua, Pasham, Divya, Bhamidipati, Sravya, Kottapalli, Kavya, Arnett, Donna K., Ashley-Koch, Allison, Auer, Paul L., Beutel, Kathleen M, Bis, Joshua C., Blangero, John, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chen, Yii-Der Ida, Cho, Michael H., Curran, Joanne E., Fornage, Myriam, Freedman, Barry I., Fingerlin, Tasha, Gelb, Bruce D., Hou, Lifang, Hung, Yi-Jen, Kane, John P, Kaplan, Robert, Kim, Wonji, Loos, Ruth J.F., Marcus, Gregory M, Mathias, Rasika A., McGarvey, Stephen T., Montgomery, Courtney, Naseri, Take, Nouraie, S. Mehdi, Preuss, Michael H., Palmer, Nicholette D., Peyser, Patricia A., Raffield, Laura M., Ratan, Aakrosh, Redline, Susan, Reupena, Sefuiva, Rotter, Jerome I., Rich, Stephen S., Rienstra, Michiel, Ruczinski, Ingo, Sankaran, Vijay G., Schwartz, David A., Seidman, Christine E., Seidman, Jonathan G., Silverman, Edwin K., Smith, Jennifer A., Stilp, Adrienne, Taylor, Kent D., Telen, Marilyn J., Weiss, Scott T., Williams, L. Keoki, Wu, Baojun, Yanek, Lisa R., Zhang, Yingze, Lasky-Su, Jessica, Gingras, Marie Claude, Dutcher, Susan K., Eichler, Evan E., Gabriel, Stacey, Germer, Soren, Kim, Ryan, Viaud-Martinez, Karine A., Nickerson, Deborah A., Luo, James, Reiner, Alex, Gibbs, Richard A, Boerwinkle, Eric, Abecasis, Goncalo, Sedlazeck, Fritz J
Publicado 2023

Structural variation across 138,134 samples in the TOPMed consortium

por Jun, Goo, English, Adam C, Metcalf, Ginger A, Yang, Jianzhi, Chaisson, Mark JP, Pankratz, Nathan, Menon, Vipin K, Salerno, William J, Krasheninina, Olga, Smith, Albert V, Lane, John A, Blackwell, Tom, Kang, Hyun Min, Salvi, Sejal, Meng, Qingchang, Shen, Hua, Pasham, Divya, Bhamidipati, Sravya, Kottapalli, Kavya, Arnett, Donna K., Ashley-Koch, Allison, Auer, Paul L., Beutel, Kathleen M, Bis, Joshua C., Blangero, John, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chen, Yii-Der Ida, Cho, Michael H., Curran, Joanne E., Fornage, Myriam, Freedman, Barry I., Fingerlin, Tasha, Gelb, Bruce D., Hou, Lifang, Hung, Yi-Jen, Kane, John P, Kaplan, Robert, Kim, Wonji, Loos, Ruth J.F., Marcus, Gregory M, Mathias, Rasika A., McGarvey, Stephen T., Montgomery, Courtney, Naseri, Take, Nouraie, S. Mehdi, Preuss, Michael H., Palmer, Nicholette D., Peyser, Patricia A., Raffield, Laura M., Ratan, Aakrosh, Redline, Susan, Reupena, Sefuiva, Rotter, Jerome I., Rich, Stephen S., Rienstra, Michiel, Ruczinski, Ingo, Sankaran, Vijay G., Schwartz, David A., Seidman, Christine E., Seidman, Jonathan G., Silverman, Edwin K., Smith, Jennifer A., Stilp, Adrienne, Taylor, Kent D., Telen, Marilyn J., Weiss, Scott T., Williams, L. Keoki, Wu, Baojun, Yanek, Lisa R., Zhang, Yingze, Lasky-Su, Jessica, Gingras, Marie Claude, Dutcher, Susan K., Eichler, Evan E., Gabriel, Stacey, Germer, Soren, Kim, Ryan, Viaud-Martinez, Karine A., Nickerson, Deborah A., Luo, James, Reiner, Alex, Gibbs, Richard A, Boerwinkle, Eric, Abecasis, Goncalo, Sedlazeck, Fritz J
Publicado 2023

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

por Bis, Joshua C., Jian, Xueqiu, Kunkle, Brian W., Chen, Yuning, Hamilton-Nelson, Kara L., Bush, William S., Salerno, William J., Lancour, Daniel, Ma, Yiyi, Renton, Alan E., Marcora, Edoardo, Farrell, John J., Zhao, Yi, Qu, Liming, Ahmad, Shahzad, Amin, Najaf, Amouyel, Philippe, Beecham, Gary W., Below, Jennifer E., Campion, Dominique, Cantwell, Laura, Charbonnier, Camille, Chung, Jaeyoon, Crane, Paul K., Cruchaga, Carlos, Cupples, L. Adrienne, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Fulton, Lucinda, Gabriel, Stacey B., Genin, Emmanuelle, Gibbs, Richard A., Goate, Alison, Grenier-Boley, Benjamin, Gupta, Namrata, Haines, Jonathan L., Havulinna, Aki S., Helisalmi, Seppo, Hiltunen, Mikko, Howrigan, Daniel P., Ikram, M. Arfan, Kaprio, Jaakko, Konrad, Jan, Kuzma, Amanda, Lander, Eric S., Lathrop, Mark, Lehtimäki, Terho, Lin, Honghuang, Mattila, Kari, Mayeux, Richard, Muzny, Donna M., Nasser, Waleed, Neale, Benjamin, Nho, Kwangsik, Nicolas, Gaël, Patel, Devanshi, Pericak-Vance, Margaret A., Perola, Markus, Psaty, Bruce M., Quenez, Olivier, Rajabli, Farid, Redon, Richard, Reitz, Christiane, Remes, Anne M., Salomaa, Veikko, Sarnowski, Chloe, Schmidt, Helena, Schmidt, Michael, Schmidt, Reinhold, Soininen, Hilkka, Thornton, Timothy A., Tosto, Giuseppe, Tzourio, Christophe, van der Lee, Sven J., van Duijn, Cornelia M., Valladares, Otto, Vardarajan, Badri, Wang, Li-San, Wang, Weixin, Wijsman, Ellen, Wilson, Richard K., Witten, Daniela, Worley, Kim C., Zhang, Xiaoling, Bellenguez, Celine, Lambert, Jean-Charles, Kurki, Mitja I., Palotie, Aarno, Daly, Mark, Boerwinkle, Eric, Lunetta, Kathryn L., Destefano, Anita L., Dupuis, Josée, Martin, Eden R., Schellenberg, Gerard D., Seshadri, Sudha, Naj, Adam C., Fornage, Myriam, Farrer, Lindsay A.
Publicado 2018

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

por Bis, Joshua C., Jian, Xueqiu, Kunkle, Brian W., Chen, Yuning, Hamilton-Nelson, Kara L., Bush, William S., Salerno, William J., Lancour, Daniel, Ma, Yiyi, Renton, Alan E., Marcora, Edoardo, Farrell, John J., Zhao, Yi, Qu, Liming, Ahmad, Shahzad, Amin, Najaf, Amouyel, Philippe, Beecham, Gary W., Below, Jennifer E., Campion, Dominique, Cantwell, Laura, Charbonnier, Camille, Chung, Jaeyoon, Crane, Paul K., Cruchaga, Carlos, Cupples, L. Adrienne, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Fulton, Lucinda, Gabriel, Stacey B., Genin, Emmanuelle, Gibbs, Richard A., Goate, Alison, Grenier-Boley, Benjamin, Gupta, Namrata, Haines, Jonathan L., Havulinna, Aki S., Helisalmi, Seppo, Hiltunen, Mikko, Howrigan, Daniel P., Ikram, M. Arfan, Kaprio, Jaakko, Konrad, Jan, Kuzma, Amanda, Lander, Eric S., Lathrop, Mark, Lehtimäki, Terho, Lin, Honghuang, Mattila, Kari, Mayeux, Richard, Muzny, Donna M., Nasser, Waleed, Neale, Benjamin, Nho, Kwangsik, Nicolas, Gaël, Patel, Devanshi, Pericak-Vance, Margaret A., Perola, Markus, Psaty, Bruce M., Quenez, Olivier, Rajabli, Farid, Redon, Richard, Reitz, Christiane, Remes, Anne M., Salomaa, Veikko, Sarnowski, Chloe, Schmidt, Helena, Schmidt, Michael, Schmidt, Reinhold, Soininen, Hilkka, Thornton, Timothy A., Tosto, Giuseppe, Tzourio, Christophe, van der Lee, Sven J., van Duijn, Cornelia M., Valladares, Otto, Vardarajan, Badri, Wang, Li-San, Wang, Weixin, Wijsman, Ellen, Wilson, Richard K., Witten, Daniela, Worley, Kim C., Zhang, Xiaoling, Bellenguez, Celine, Lambert, Jean-Charles, Kurki, Mitja I., Palotie, Aarno, Daly, Mark, Boerwinkle, Eric, Lunetta, Kathryn L., Destefano, Anita L., Dupuis, Josée, Martin, Eden R., Schellenberg, Gerard D., Seshadri, Sudha, Naj, Adam C., Fornage, Myriam, Farrer, Lindsay A.
Publicado 2019