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Discovery and genotyping of structural variation from long-read haploid genome sequence data (vol 27, pg 677, 2017) 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. 分享 收藏
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly GRCh38和从头单倍体基因组装配的评估证明了参考装配的持久质量 Schneider, Valerie A.; Graves-Lindsay, Tina; Howe, Kerstin; Bouk, Nathan; Chen, Hsiu-Chuan; Kitts, Paul A.; Murphy, Terence D.; Pruitt, Kim D.; Thibaud-Nissen, Francoise; 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. 分享 收藏
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Discovery and genotyping of structural variation from long-read haploid genome sequence data 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. 分享 收藏
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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 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. 分享 收藏
Extending reference assembly models 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 分享 收藏
Single haplotype assembly of the human genome from a hydatidiform mole 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. 分享 收藏
Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity Watson, C. T.; Steinberg, K. M.; Graves, T. A.; Warren, R. L.; Malig, M.; Schein, J.; Wilson, R. K.; Holt, R. A.; Eichler, E. E.; Breden, F. 分享 收藏
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders Koboldt, Daniel C.; Larson, David E.; Sullivan, Lori S.; Bowne, Sara J.; Steinberg, Karyn M.; Churchill, Jennifer D.; Buhr, Aimee C.; Nutter, Nathan; Pierce, Eric A.; Blanton, Susan H.; Weinstock, George M.; Wilson, Richard K.; Daiger, Stephen P. 分享 收藏
Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation Watson, Corey T.; Steinberg, Karyn M.; Huddleston, John; Warren, Rene L.; Malig, Maika; Schein, Jacqueline; Willsey, A. Jeremy; Joy, Jeffrey B.; Scott, Jamie K.; Graves, Tina A.; Wilson, Richard K.; Holt, Robert A.; Eichler, Evan E.; Breden, Felix 分享 收藏
Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus 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. 分享 收藏
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Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing 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. 分享 收藏
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