ClinVar: public archive of relationships among sequence variation and human phenotype

por Landrum, Melissa J., Lee, Jennifer M., Riley, George R., Jang, Wonhee, Rubinstein, Wendy S., Church, Deanna M., Maglott, Donna R.
Publicado 2014

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

por Azzariti, Danielle R., Riggs, Erin Rooney, Niehaus, Annie, Rodriguez, Laura Lyman, Ramos, Erin M., Kattman, Brandi, Landrum, Melissa J., Martin, Christa L., Rehm, Heidi L.
Publicado 2018

ClinVar: public archive of interpretations of clinically relevant variants

por 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.
Publicado 2016

Somatic cancer variant curation and harmonization through consensus minimum variant level data

por Ritter, 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, Subha
Publicado 2016

ClinVar: improving access to variant interpretations and supporting evidence

por 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
Publicado 2018

RefSeq: an update on mammalian reference sequences

por Pruitt, 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 M.
Publicado 2014

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

por O'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 D.
Publicado 2016