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Journal Articles
- 2020
[j4]J. Bradley Holmes
, Eric Moyer, Lon Phan, Donna R. Maglott, Brandi L. Kattman:
SPDI: data model for variants and applications at NCBI. Bioinform. 36(6): 1902-1907 (2020)- [j3]Melissa J. Landrum, Shanmuga Chitipiralla, Garth R. Brown, Chao Chen, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Kuljeet Kaur, Chunlei Liu, Vitaly Lyoshin, Zenith Maddipatla, Rama Maiti, Joseph Mitchell, Nuala A. O'Leary, George R. Riley, Wenyao Shi, George Zhou, Valerie A. Schneider, Donna R. Maglott, J. Bradley Holmes, Brandi L. Kattman:
ClinVar: improvements to accessing data. Nucleic Acids Res. 48(Database-Issue): D835-D844 (2020) - 2018
- [j2]Melissa J. Landrum, Jennifer M. Lee, Mark Benson, Garth R. Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Karen Karapetyan, Kenneth S. Katz, Chunlei Liu, Zenith Maddipatla, Adriana J. Malheiro, Kurt McDaniel, Michael Ovetsky, George R. Riley, George Zhou, J. Bradley Holmes, Brandi L. Kattman, Donna R. Maglott:
ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 46(Database-Issue): D1062-D1067 (2018) - 2013
- [j1]Wendy S. Rubinstein, Donna R. Maglott, Jennifer M. Lee, Brandi L. Kattman, Adriana J. Malheiro, Michael Ovetsky, Vichet Hem, Vyatcheslav Gorelenkov, Guangfeng Song, Craig Wallin, Nora Husain, Shanmuga Chitipiralla, Kenneth S. Katz, Douglas Hoffman, Wonhee Jang, Mark Johnson, Fedor Karmanov, Alexander Ukrainchik, Mikhail Denisenko, Cathy Fomous, Kathy Hudson, James Ostell:
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Nucleic Acids Res. 41(Database-Issue): 925-935 (2013)
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