未登录 Increased automation reduces turnaround time for submissions to ClinVar Landrum, Melissa; Chitipiralla, Shanmuga; Brown, Garth; Chen, Chao; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Jang, Wonhee; Liu, Chunlei; Maddipatla, Zenith; Maglott, Donna; Maiti, Rama; Mitchell, Joseph; Rezaie, Tayebeh; Riley, George; Shao, David; Zhou, George; Lyoshin, Vitaly; Swallow, Chris; Kaur, Kuljeet; Russette, Andrew; Kattman, Brandi 分享 收藏
ClinVar: improvements to accessing data Landrum, Melissa J.; Chitipiralla, Shanmuga; Brown, Garth R.; Chen, Chao; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Jang, Wonhee; Kaur, Kuljeet; Liu, Chunlei; Lyoshin, Vitaly; Maddipatla, Zenith; Maiti, Rama; Mitchell, Joseph; O'Leary, Nuala; Riley, George R.; Shi, Wenyao; Zhou, George; Schneider, Valerie; Maglott, Donna; Holmes, J. Bradley; Kattman, Brandi L. 分享 收藏
ClinVar: improving access to variant interpretations and supporting evidence ClinVar: 改善对变体解释和支持证据的访问 Landrum, Melissa J.; Lee, Jennifer M.; Benson, Mark; Brown, Garth R.; Chao, Chen; Chitipiralla, Shanmuga; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Jang, Wonhee; Karapetyan, Karen; Katz, Kenneth; Liu, Chunlei; Maddipatla, Zenith; Malheiro, Adriana; McDaniel, Kurt; Ovetsky, Michael; Riley, George; Zhou, George; Holmes, J. Bradley; Kattman, Brandi L.; Maglott, Donna R. 分享 收藏
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings Lubin, Ira M.; Aziz, Nazneen; Babb, Lawrence J.; Ballinger, Dennis; Bisht, Himani; Church, Deanna M.; Cordes, Shaun; Eilbeck, Karen; Hyland, Fiona; Kalman, Lisa; Landrum, Melissa; Lockhart, Edward R.; Maglott, Donna; Marth, Gabor; Pfeifer, John D.; Rehm, Heidi L.; Roy, Somak; Tezak, Zivana; Truty, Rebecca; Ullman-Cullere, Mollie; Voelkerding, Karl V.; Worthey, Elizabeth A.; Zaranek, Alexander W.; Zook, Justin M. 分享 收藏
HGVS Recommendations for the Description of Sequence Variants: 2016 Update 序列变异描述的HGVS建议: 2016更新 den Dunnen, Johan T.; Dalgleish, Raymond; Maglott, Donna R.; Hart, Reece K.; Greenblatt, Marc S.; McGowan-Jordan, Jean; Roux, Anne-Francoise; Smith, Timothy; Antonarakis, Stylianos E.; Taschner, Peter E. M. 分享 收藏
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ClinVar: public archive of interpretations of clinically relevant variants ClinVar: 临床相关变体解释的公共档案 Landrum, Melissa J.; Lee, Jennifer M.; Benson, Mark; Brown, Garth; Chao, Chen; Chitipiralla, Shanmuga; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Hoover, Jeffrey; Jang, Wonhee; Katz, Kenneth; Ovetsky, Michael; Riley, George; Sethi, Amanjeev; Tully, Ray; Villamarin-Salomon, Ricardo; Rubinstein, Wendy; Maglott, Donna R. 分享 收藏
Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation NCBI的参考序列 (RefSeq) 数据库: 当前状态，分类学扩展和功能注释 O'Leary, Nuala A.; Wright, Mathew W.; Brister, J. Rodney; Ciufo, Stacy; McVeigh, Diana Haddad Rich; Rajput, Bhanu; Robbertse, Barbara; Smith-White, Brian; Ako-Adjei, Danso; Astashyn, Alexander; Badretdin, Azat; Bao, Yiming; Blinkova, Olga; Brover, Vyacheslav; Chetvernin, Vyacheslav; Choi, Jinna; Cox, Eric; Ermolaeva, Olga; Farrell, Catherine M.; Goldfarb, Tamara; Gupta, Tripti; Haft, Daniel; Hatcher, Eneida; Hlavina, Wratko; Joardar, Vinita S.; Kodali, Vamsi K.; Li, Wenjun; Maglott, Donna; Masterson, Patrick; McGarvey, Kelly M.; Murphy, Michael R.; O'Neill, Kathleen; Pujar, Shashikant; Rangwala, Sanjida H.; Rausch, Daniel; Riddick, Lillian D.; Schoch, Conrad; Shkeda, Andrei; Storz, Susan S.; Sun, Hanzhen; Thibaud-Nissen, Francoise; Tolstoy, Igor; Tully, Raymond E.; Vatsan, Anjana R.; Wallin, Craig; Webb, David; Wu, Wendy; Landrum, Melissa J.; Kimchi, Avi; Tatusova, Tatiana; DiCuccio, Michael; Kitts, Paul; Murphy, Terence D.; Pruitt, Kim D. 分享 收藏
ClinGen - The Clinical Genome Resource ClinGen-临床基因组资源 Rehm, Heidi L.; Berg, Jonathan S.; Brooks, Lisa D.; Bustamante, Carlos D.; Evans, James P.; Landrum, Melissa J.; Ledbetter, David H.; Maglott, Donna R.; Martin, Christa Lese; Nussbaum, Robert L.; Plon, Sharon E.; Ramos, Erin M.; Sherry, Stephen T.; Watson, Michael S. 分享 收藏
Gene: a gene-centered information resource at NCBI Brown, Garth R.; Hem, Vichet; Katz, Kenneth S.; Ovetsky, Michael; Wallin, Craig; Ermolaeva, Olga; Tolstoy, Igor; Tatusova, Tatiana; Pruitt, Kim D.; Maglott, Donna R.; Murphy, Terence D. 分享 收藏
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants MacArthur, Jacqueline A. L.; Morales, Joannella; Tully, Ray E.; Astashyn, Alex; Gil, Laurent; Bruford, Elspeth A.; Larsson, Pontus; Flicek, Paul; Dalgleish, Raymond; Maglott, Donna R.; Cunningham, Fiona 分享 收藏
RefSeq: an update on mammalian reference sequences RefSeq: 哺乳动物参考序列的更新 Pruitt, Kim D.; Brown, Garth R.; Hiatt, Susan M.; Thibaud-Nissen, Francoise; Astashyn, Alexander; Ermolaeva, Olga; Farrell, Catherine M.; Hart, Jennifer; Landrum, Melissa J.; McGarvey, Kelly M.; Murphy, Michael R.; O'Leary, Nuala A.; Pujar, Shashikant; Rajput, Bhanu; Rangwala, Sanjida H.; Riddick, Lillian D.; Shkeda, Andrei; Sun, Hanzhen; Tamez, Pamela; Tully, Raymond E.; Wallin, Craig; Webb, David; Weber, Janet; Wu, Wendy; DiCuccio, Michael; Kitts, Paul; Maglott, Donna R.; Murphy, Terence D.; Ostell, James M. 分享 收藏
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Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project Oetting, William S.; Robinson, Peter N.; Greenblatt, Marc S.; Cotton, Richard G.; Beck, Tim; Carey, John C.; Doelken, Sandra C.; Girdea, Marta; Groza, Tudor; Hamilton, Carol M.; Hamosh, Ada; Kerner, Berit; MacArthur, Jacqueline A. L.; Maglott, Donna R.; Mons, Barend; Rehm, Heidi L.; Schofield, Paul N.; Searle, Beverly A.; Smedley, Damian; Smith, Cynthia L.; Bernstein, Inge Thomsen; Zankl, Andreas; Zhao, Eric Y. 分享 收藏
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The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency Rubinstein, Wendy S.; Maglott, Donna R.; Lee, Jennifer M.; Kattman, Brandi L.; Malheiro, Adriana J.; Ovetsky, Michael; Hem, Vichet; Gorelenkov, Viatcheslav; Song, Guangfeng; Wallin, Craig; Husain, Nora; Chitipiralla, Shanmuga; Katz, Kenneth S.; Hoffman, Douglas; Jang, Wonhee; Johnson, Mark; Karmanov, Fedor; Ukrainchik, Alexander; Denisenko, Mikhail; Fomous, Cathy; Hudson, Kathy; Ostell, James M. 分享 收藏
Database resources of the National Center for Biotechnology Information 国家生物技术信息中心数据库资源 Sayers, Eric W.; Barrett, Tanya; Benson, Dennis A.; Bolton, Evan; Bryant, Stephen H.; Canese, Kathi; Chetvernin, Vyacheslav; Church, Deanna M.; DiCuccio, Michael; Federhen, Scott; Feolo, Michael; Fingerman, Ian M.; Geer, Lewis Y.; Helmberg, Wolfgang; Kapustin, Yuri; Krasnov, Sergey; Landsman, David; Lipman, David J.; Lu, Zhiyong; Madden, Thomas L.; Madej, Tom; Maglott, Donna R.; Marchler-Bauer, Aron; Miller, Vadim; Karsch-Mizrachi, Ilene; Ostell, James; Panchenko, Anna; Phan, Lon; Pruitt, Kim D.; Schuler, Gregory D.; Sequeira, Edwin; Sherry, Stephen T.; Shumway, Martin; Sirotkin, Karl; Slotta, Douglas; Souvorov, Alexandre; Starchenko, Grigory; Tatusova, Tatiana A.; Wagner, Lukas; Wang, Yanli; Wilbur, W. John; Yaschenko, Eugene; Ye, Jian 分享 收藏
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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach Giardine, Belinda; Borg, Joseph; Higgs, Douglas R.; Peterson, Kenneth R.; Philipsen, Sjaak; Maglott, Donna; Singleton, Belinda K.; Anstee, David J.; Basak, A. Nazli; Clark, Barnaby; Costa, Flavia C.; Faustino, Paula; Fedosyuk, Halyna; Felice, Alex E.; Francina, Alain; Galanello, Renzo; Gallivan, Monica V. E.; Georgitsi, Marianthi; Gibbons, Richard J.; Giordano, Piero C.; Harteveld, Cornelis L.; Hoyer, James D.; Jarvis, Martin; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N.; Papadopoulos, Petros; Pavlovic, Sonja; Perseu, Lucia; Radmilovic, Milena; Riemer, Cathy; Satta, Stefania; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John S.; Wiemann, Claudia; Zukic, Branka; Chui, David H. K.; Wajcman, Henri; Hardison, Ross C.; Patrinos, George P. 分享 收藏
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