Human Variome Project Quality Assessment Criteria for Variation Databases

Por Vihinen, Mauno, Hancock, John M., Maglott, Donna R., Landrum, Melissa J., Schaafsma, Gerard C. P., Taschner, Peter
Publicado no Hum Mutat (2016)

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 em 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 no Cold Spring Harb Mol Case Stud (2018)

Using ClinVar as a Resource to Support Variant Interpretations

Por Harrison, Steven M., Riggs, Erin R., Maglott, Donna R., Lee, Jennifer M., Azzariti, Danielle R., Niehaus, Annie, Ramos, Erin M., Martin, Christa L., Landrum, Melissa J., Rehm, Heidi L.
Publicado no Curr Protoc Hum Genet (2016)

ClinGen — The Clinical Genome Resource

Por 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.
Publicado no N Engl J Med (2015)

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 no Nucleic Acids Res (2016)

ClinGen’s GenomeConnect Registry Enables Patient-Centered Data Sharing

Por Savatt, 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 Lese
Publicado no Hum Mutat (2018)

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 no Genome Med (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 no Nucleic Acids Res (2018)

ClinVar: improvements to accessing data

Por 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
Publicado no Nucleic Acids Res (2020)

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 em 2014

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

Por Pruitt, Kim D., Harrow, Jennifer, Harte, Rachel A., Wallin, Craig, Diekhans, Mark, Maglott, Donna R., Searle, Steve, Farrell, Catherine M., Loveland, Jane E., Ruef, Barbara J., Hart, Elizabeth, Suner, Marie-Marthe, Landrum, Melissa J., Aken, Bronwen, Ayling, Sarah, Baertsch, Robert, Fernandez-Banet, Julio, Cherry, Joshua L., Curwen, Val, DiCuccio, Michael, Kellis, Manolis, Lee, Jennifer, Lin, Michael F., Schuster, Michael, Shkeda, Andrew, Amid, Clara, Brown, Garth, Dukhanina, Oksana, Frankish, Adam, Hart, Jennifer, Maidak, Bonnie L., Mudge, Jonathan, Murphy, Michael R., Murphy, Terence, Rajan, Jeena, Rajput, Bhanu, Riddick, Lillian D., Snow, Catherine, Steward, Charles, Webb, David, Weber, Janet A., Wilming, Laurens, Wu, Wenyu, Birney, Ewan, Haussler, David, Hubbard, Tim, Ostell, James, Durbin, Richard, Lipman, David
Publicado em 2009

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 no Nucleic Acids Res (2016)