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Material Type: Artigo
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ClinVar: public archive of relationships among sequence variation and human phenotypeLandrum, Melissa J ; Lee, Jennifer M ; Riley, George R ; Jang, Wonhee ; Rubinstein, Wendy S ; Church, Deanna M ; Maglott, Donna RNucleic acids research, 2014-01, Vol.42 (Database issue), p.D980-D985 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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ClinVar: improvements to accessing dataLandrum, 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 LNucleic acids research, 2020-01, Vol.48 (D1), p.D835-D844 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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ClinVar: improving access to variant interpretations and supporting evidenceLandrum, 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 RNucleic acids research, 2018-01, Vol.46 (D1), p.D1062-D1067 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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ClinVar: public archive of interpretations of clinically relevant variantsLandrum, 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 RNucleic acids research, 2016-01, Vol.44 (D1), p.D862-D868 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Database resources of the National Center for Biotechnology Information in 2023Sayers, Eric W ; Bolton, Evan E ; Brister, J Rodney ; Canese, Kathi ; Chan, Jessica ; Comeau, Donald C ; Farrell, Catherine M ; Feldgarden, Michael ; Fine, Anna M ; Funk, Kathryn ; Hatcher, Eneida ; Kannan, Sivakumar ; Kelly, Christopher ; Kim, Sunghwan ; Klimke, William ; Landrum, Melissa J ; Lathrop, Stacy ; Lu, Zhiyong ; Madden, Thomas L ; Malheiro, Adriana ; Marchler-Bauer, Aron ; Murphy, Terence D ; Phan, Lon ; Pujar, Shashikant ; Rangwala, Sanjida H ; Schneider, Valerie A ; Tse, Tony ; Wang, Jiyao ; Ye, Jian ; Trawick, Barton W ; Pruitt, Kim D ; Sherry, Stephen TNucleic acids research, 2023-01, Vol.51 (D1), p.D29-D38 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Database resources of the National Center for Biotechnology InformationSayers, Eric W ; Beck, Jeffrey ; Bolton, Evan E ; Bourexis, Devon ; Brister, James R ; Canese, Kathi ; Comeau, Donald C ; Funk, Kathryn ; Kim, Sunghwan ; Klimke, William ; Marchler-Bauer, Aron ; Landrum, Melissa ; Lathrop, Stacy ; Lu, Zhiyong ; Madden, Thomas L ; O’Leary, Nuala ; Phan, Lon ; Rangwala, Sanjida H ; Schneider, Valerie A ; Skripchenko, Yuri ; Wang, Jiyao ; Ye, Jian ; Trawick, Barton W ; Pruitt, Kim D ; Sherry, Stephen TNucleic acids research, 2021-01, Vol.49 (D1), p.D10-D17 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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RefSeq: an update on mammalian reference sequencesPruitt, Kim D ; Brown, Garth R ; Hiatt, Susan M ; Thibaud-Nissen, Françoise ; 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 MNucleic acids research, 2014-01, Vol.42 (Database issue), p.D756-D763 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Somatic cancer variant curation and harmonization through consensus minimum variant level dataRitter, Deborah I ; Roychowdhury, Sameek ; Roy, Angshumoy ; Rao, Shruti ; Landrum, Melissa J ; Sonkin, Dmitriy ; Shekar, Mamatha ; Davis, Caleb F ; Hart, Reece K ; Micheel, Christine ; Weaver, Meredith ; Van Allen, Eliezer M ; Parsons, Donald W ; McLeod, Howard L ; Watson, Michael S ; Plon, Sharon E ; Kulkarni, Shashikant ; Madhavan, SubhaGenome medicine, 2016-11, Vol.8 (1), p.117-117, Article 117 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Points to consider for sharing variant-level information from clinical genetic testing with ClinVarAzzariti, Danielle R ; Riggs, Erin Rooney ; Niehaus, Annie ; Rodriguez, Laura Lyman ; Ramos, Erin M ; Kattman, Brandi ; Landrum, Melissa J ; Martin, Christa L ; Rehm, Heidi LCold Spring Harbor molecular case studies, 2018-02, Vol.4 (1), p.a002345 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotationO'Leary, Nuala A ; Wright, Mathew W ; Brister, J Rodney ; Ciufo, Stacy ; Haddad, Diana ; McVeigh, 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 DNucleic acids research, 2016-01, Vol.44 (D1), p.D733-D745 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |