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11 |
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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12 |
Material Type: Artigo
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ClinGen's GenomeConnect registry enables patient‐centered data sharingSavatt, Juliann M. ; Azzariti, Danielle R. ; Faucett, W. Andrew ; Harrison, Steven ; Hart, Jennifer ; Kattman, Brandi ; Landrum, Melissa J. ; Ledbetter, David H. ; Miller, Vanessa Rangel ; Palen, Emily ; Rehm, Heidi L. ; Rhode, Jud ; Turner, Stefanie ; Vidal, Jo Anne ; Wain, Karen E. ; Riggs, Erin Rooney ; Martin, Christa LeseHuman mutation, 2018-11, Vol.39 (11), p.1668-1676 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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13 |
Material Type: Artigo
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Human Variome Project Quality Assessment Criteria for Variation DatabasesVihinen, Mauno ; Hancock, John M. ; Maglott, Donna R. ; Landrum, Melissa J. ; Schaafsma, Gerard C. P. ; Taschner, PeterHuman mutation, 2016-06, Vol.37 (6), p.549-558 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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14 |
Material Type: Artigo
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O30: Graphics and filters make it easier to evaluate many variants in ClinVar search resultsLandrum, Melissa ; Chitipiralla, Shanmuga ; Kaur, Kuljeet ; Hoffman, Douglas ; Lyoshin, Vitaly ; Maddipatla, Zenith ; Shao, David ; Song, Guangfeng ; Zhou, George ; Russette, Andrew ; Kattman, BrandiGenetics in Medicine Open, 2023, Vol.1 (1), p.100456, Article 100456 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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15 |
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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16 |
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 |
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17 |
Material Type: Artigo
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Database resources of the National Center for Biotechnology InformationNucleic acids research, 2016-01, Vol.44 (D1), p.D7-D19 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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18 |
Material Type: Artigo
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Database Resources of the National Center for Biotechnology InformationNucleic acids research, 2017-01, Vol.45 (D1), p.D12-D17 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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19 |
Material Type: Artigo
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Tracking genetic variants in the biomedical literature using LitVar 2.0Allot, Alexis ; Wei, Chih-Hsuan ; Phan, Lon ; Hefferon, Timothy ; Landrum, Melissa ; Rehm, Heidi L ; Lu, ZhiyongNature genetics, 2023-06, Vol.55 (6), p.901-903 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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20 |
Material Type: Artigo
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Database resources of the National Center for Biotechnology InformationNucleic acids research, 2015-01, Vol.43 (Database issue), p.D6-D17 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |