Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing von Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M

Volltext

A cloud-compatible bioinformatics pipeline for ultrarapid pathogen identification from next-generation sequencing of clinical samples von Naccache, Samia N, Federman, Scot, Veeraraghavan, Narayanan, Zaharia, Matei, Lee, Deanna, Samayoa, Erik, Bouquet, Jerome, Greninger, Alexander L, Luk, Ka-Cheung, Enge, Barryett, Wadford, Debra A, Messenger, Sharon L, Genrich, Gillian L, Pellegrino, Kristen, Grard, Gilda, Leroy, Eric, Schneider, Bradley S, Fair, Joseph N, Martínez, Miguel A, Isa, Pavel, Crump, John A, DeRisi, Joseph L, Sittler, Taylor, Hackett, Jr, John, Miller, Steve, Chiu, Charles Y

Volltext

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization von Farnaes, Lauge, Hildreth, Amber, Sweeney, Nathaly M., Clark, Michelle M., Chowdhury, Shimul, Nahas, Shareef, Cakici, Julie A., Benson, Wendy, Kaplan, Robert H., Kronick, Richard, Bainbridge, Matthew N., Friedman, Jennifer, Gold, Jeffrey J., Ding, Yan, Veeraraghavan, Narayanan, Dimmock, David, Kingsmore, Stephen F.

Volltext

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome von Owen, Mallory J, Niemi, Anna-Kaisa, Dimmock, David P, Speziale, Mark, Nespeca, Mark, Chau, Kevin K, Van Der Kraan, Luca, Wright, Meredith S, Hansen, Christian, Veeraraghavan, Narayanan, Ding, Yan, Lenberg, Jerica, Chowdhury, Shimul, Hobbs, Charlotte A, Batalov, Sergey, Zhu, Zhanyang, Nahas, Shareef A, Gilmer, Sheldon, Knight, Gail, Lefebvre, Sebastien, Reynders, John, Defay, Thomas, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lajoie, Bryan R, McPhail, Tim K, Mehtalia, Shyamal S, Kunard, Chris M, Hall, Kevin P, Kingsmore, Stephen F

Volltext

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases von De la Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Loescher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Ounap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.

Volltext

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease von Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.

Volltext

A novel rhabdovirus associated with acute hemorrhagic fever in central Africa von Grard, Gilda, Fair, Joseph N, Lee, Deanna, Slikas, Elizabeth, Steffen, Imke, Muyembe, Jean-Jacques, Sittler, Taylor, Veeraraghavan, Narayanan, Ruby, J Graham, Wang, Chunlin, Makuwa, Maria, Mulembakani, Prime, Tesh, Robert B, Mazet, Jonna, Rimoin, Anne W, Taylor, Travis, Schneider, Bradley S, Simmons, Graham, Delwart, Eric, Wolfe, Nathan D, Chiu, Charles Y, Leroy, Eric M

Volltext

Assessing structural variation in a personal genome-towards a human reference diploid genome von 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

Volltext

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses von James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.

Volltext

A hybrid computational strategy to address WGS variant analysis in >5000 samples von Huang, Zhuoyi, Rustagi, Navin, Veeraraghavan, Narayanan, Carroll, Andrew, Gibbs, Richard, Boerwinkle, Eric, Venkata, Manjunath Gorentla, Yu, Fuli

Volltext

The genome sequence of Lone Star virus, a highly divergent bunyavirus found in the Amblyomma americanum tick von Swei, Andrea, Russell, Brandy J, Naccache, Samia N, Kabre, Beniwende, Veeraraghavan, Narayanan, Pilgard, Mark A, Johnson, Barbara J B, Chiu, Charles Y

Volltext

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease von Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.

Volltext

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease von Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Batalov, Sergey, Clark, Michelle, Caylor, Sara, Cakici, Julie, Nigro, John J., Ding, Yan, Veeraraghavan, Narayanan, Hobbs, Charlotte, Dimmock, David, Kingsmore, Stephen F.

Volltext

Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility von Kim, Jihoon, Shimizu, Chisato, Kingsmore, Stephen F, Veeraraghavan, Narayanan, Levy, Eric, Ribeiro Dos Santos, Andre M, Yang, Hai, Flatley, Jay, Hoang, Long Truong, Hibberd, Martin L, Tremoulet, Adriana H, Harismendy, Olivier, Ohno-Machado, Lucila, Burns, Jane C

Volltext

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots von Ding, Yan, Owen, Mallory, Le, Jennie, Batalov, Sergey, Chau, Kevin, Kwon, Yong Hyun, Van Der Kraan, Lucita, Bezares-Orin, Zaira, Zhu, Zhanyang, Veeraraghavan, Narayanan, Nahas, Shareef, Bainbridge, Matthew, Gleeson, Joe, Baer, Rebecca J., Bandoli, Gretchen, Chambers, Christina, Kingsmore, Stephen F.

Volltext

Correction: Correction: A Novel Rhabdovirus Associated with Acute Hemorrhagic Fever in Central Africa von Grard, Gilda, Fair, Joseph N, Lee, Deanna, Slikas, Elizabeth, Steffen, Imke, Muyembe, Jean-Jacques, Sittler, Taylor, Veeraraghavan, Narayanan, Ruby, J Graham, Wang, Chunlin, Makuwa, Maria, Mulembakani, Prime, Tesh, Robert B, Mazet, Jonna, Rimoin, Anne W, Taylor, Travis, Schneider, Bradley S, Simmons, Graham, Delwart, Eric, Wolfe, Nathan D, Chiu, Charles Y, Leroy, Eric M

Volltext

Correction: A Novel Rhabdovirus Associated with Acute Hemorrhagic Fever in Central Africa von Grard, Gilda, Fair, Joseph N, Lee, Deanna, Slikas, Elizabeth, Steffen, Imke, Muyembe, Jean-Jacques, Sittler, Taylor, Veeraraghavan, Narayanan, Ruby, J Graham, Wang, Chunlin, Makuwa, Maria, Mulembakani, Prime, Tesh, Robert B, Mazet, Jonna, Rimoin, Anne W, Taylor, Travis, Schneider, Bradley S, Simmons, Graham, Delwart, Eric, Wolfe, Nathan D, Chiu, Charles Y, Leroy, Eric M

Volltext

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm von Dimmock, David P., Clark, Michelle M., Gaughran, Mary, Cakici, Julie A., Caylor, Sara A., Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M., Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S., Kingsmore, Stephen F.

Volltext

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline von Reid, Jeffrey G, Carroll, Andrew, Veeraraghavan, Narayanan, Dahdouli, Mahmoud, Sundquist, Andreas, English, Adam, Bainbridge, Matthew, White, Simon, Salerno, William, Buhay, Christian, Yu, Fuli, Muzny, Donna, Daly, Richard, Duyk, Geoff, Gibbs, Richard A, Boerwinkle, Eric

Volltext

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases von Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay, Thomas

Volltext