Applying Rapid Genome Sequencing technologies to Characterize Pathogen Genomes: Innovations in DNA sequencing shed light on pathogen genomes

по Steinberg, Karyn Meltz, Okou, David T., Zwick, Michael E.
Опубликовано в: Anal Chem (2008)

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

по Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
Опубликовано в: Sci Rep (2015)

The Next-Generation Sequencing Revolution and Its Impact on Genomics

по Koboldt, Daniel C., Steinberg, Karyn Meltz, Larson, David E., Wilson, Richard K., Mardis, Elaine
Опубликовано 2013

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

по Steinberg, Karyn Meltz, Ramachandran, Dhanya, Patel, Viren C, Shetty, Amol C, Cutler, David J, Zwick, Michael E
Опубликовано 2012

A novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease

по Baker, Turner S., Gambino, Kristyne J., Schriefer, Lawrence, Lim, Jung-Yeon, Steinberg, Karyn Meltz, Fajgenbaum, David C., Martín García-Sancho, Alejandro, Byun, Minji
Опубликовано в: Blood Adv (2018)

SeqAnt: A web service to rapidly identify and annotate DNA sequence variations

по Shetty, Amol Carl, Athri, Prashanth, Mondal, Kajari, Horner, Vanessa L, Steinberg, Karyn Meltz, Patel, Viren, Caspary, Tamara, Cutler, David J, Zwick, Michael E
Опубликовано 2010

Single haplotype assembly of the human genome from a hydatidiform mole

по Steinberg, Karyn Meltz, Schneider, Valerie A., Graves-Lindsay, Tina A., Fulton, Robert S., Agarwala, Richa, Huddleston, John, Shiryev, Sergey A., Morgulis, Aleksandr, Surti, Urvashi, Warren, Wesley C., Church, Deanna M., Eichler, Evan E., Wilson, Richard K.
Опубликовано в: Genome Res (2014)

Extending reference assembly models

по Church, Deanna M, Schneider, Valerie A, Steinberg, Karyn Meltz, Schatz, Michael C, Quinlan, Aaron R, Chin, Chen-Shan, Kitts, Paul A, Aken, Bronwen, Marth, Gabor T, Hoffman, Michael M, Herrero, Javier, Mendoza, M Lisandra Zepeda, Durbin, Richard, Flicek, Paul
Опубликовано в: Genome Biol (2015)

Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

по Itsara, Andy, Vissers, Lisenka E.L.M., Steinberg, Karyn Meltz, Meyer, Kevin J., Zody, Michael C., Koolen, David A., de Ligt, Joep, Cuppen, Edwin, Baker, Carl, Lee, Choli, Graves, Tina A., Wilson, Richard K., Jenkins, Robert B., Veltman, Joris A., Eichler, Evan E.
Опубликовано 2012

Discovery and genotyping of structural variation from long-read haploid genome sequence data

по Huddleston, John, Chaisson, Mark J.P., Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A., Munson, Katherine M., Kronenberg, Zev N., Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K., Eichler, Evan E.
Опубликовано в: Genome Res (2017)

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

по Huddleston, John, Chaisson, Mark J.P., Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A., Munson, Katherine M., Kronenberg, Zev N., Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K., Eichler, Evan E.
Опубликовано в: Genome Res (2018)

Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus

по Mueller, Michael, Barros, Paula, Witherden, Abigail S., Roberts, Amy L., Zhang, Zhou, Schaschl, Helmut, Yu, Chack-Yung, Hurles, Matthew E., Schaffner, Catherine, Floto, R. Andres, Game, Laurence, Steinberg, Karyn Meltz, Wilson, Richard K., Graves, Tina A., Eichler, Evan E., Cook, H. Terence, Vyse, Timothy J., Aitman, Timothy J.
Опубликовано 2013

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

по Antonacci, Francesca, Dennis, Megan Y., Huddleston, John, Sudmant, Peter H., Steinberg, Karyn Meltz, Rosenfeld, Jill A., Miroballo, Mattia, Graves, Tina A., Vives, Laura, Malig, Maika, Denman, Laura, Raja, Archana, Stuart, Andrew, Tang, Joyce, Munson, Brenton, Shaffer, Lisa G., Amemiya, Chris T., Wilson, Richard K., Eichler, Evan E.
Опубликовано в: Nat Genet (2014)

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

по Steinberg, Karyn Meltz, Antonacci, Francesca, Sudmant, Peter H., Kidd, Jeffrey M., Campbell, Catarina D., Vives, Laura, Malig, Maika, Scheinfeldt, Laura, Beggs, William, Ibrahim, Muntaser, Lema, Godfrey, Nyambo, Thomas B., Omar, Sabah A., Bodo, Jean-Marie, Froment, Alain, Donnelly, Michael P., Kidd, Kenneth K., Tishkoff, Sarah A., Eichler, Evan E.
Опубликовано 2012

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

по Leslie, Elizabeth J., Taub, Margaret A., Liu, Huan, Steinberg, Karyn Meltz, Koboldt, Daniel C., Zhang, Qunyuan, Carlson, Jenna C., Hetmanski, Jacqueline B., Wang, Hang, Larson, David E., Fulton, Robert S., Kousa, Youssef A., Fakhouri, Walid D., Naji, Ali, Ruczinski, Ingo, Begum, Ferdouse, Parker, Margaret M., Busch, Tamara, Standley, Jennifer, Rigdon, Jennifer, Hecht, Jacqueline T., Scott, Alan F., Wehby, George L., Christensen, Kaare, Czeizel, Andrew E., Deleyiannis, Frederic W.-B., Schutte, Brian C., Wilson, Richard K., Cornell, Robert A., Lidral, Andrew C., Weinstock, George M., Beaty, Terri H., Marazita, Mary L., Murray, Jeffrey C.
Опубликовано в: Am J Hum Genet (2015)

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

по Schneider, Valerie A., Graves-Lindsay, Tina, Howe, Kerstin, Bouk, Nathan, Chen, Hsiu-Chuan, Kitts, Paul A., Murphy, Terence D., Pruitt, Kim D., Thibaud-Nissen, Françoise, Albracht, Derek, Fulton, Robert S., Kremitzki, Milinn, Magrini, Vincent, Markovic, Chris, McGrath, Sean, Steinberg, Karyn Meltz, Auger, Kate, Chow, William, Collins, Joanna, Harden, Glenn, Hubbard, Timothy, Pelan, Sarah, Simpson, Jared T., Threadgold, Glen, Torrance, James, Wood, Jonathan M., Clarke, Laura, Koren, Sergey, Boitano, Matthew, Peluso, Paul, Li, Heng, Chin, Chen-Shan, Phillippy, Adam M., Durbin, Richard, Wilson, Richard K., Flicek, Paul, Eichler, Evan E., Church, Deanna M.
Опубликовано в: Genome Res (2017)

Exome sequencing of Finnish isolates enhances rare-variant association power

по Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston WK, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K, Stitziel, Nathan O, Wilson, Richard K, Hall, Ira M, Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B
Опубликовано в: Nature (2019)