Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Melissa J. Landrum"'
Autor:
Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan, on behalf of the ClinGen Somatic Cancer Working Group
Publikováno v:
Genome Medicine, Vol 8, Iss 1, Pp 1-9 (2016)
Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG) of the Clinical Genome Resource (ClinGen), in cooperati
Externí odkaz:
https://doaj.org/article/6ef4b9fea20b4dbbbfc2a9f4940e7437
Autor:
Eric W Sayers, Evan E Bolton, J Rodney Brister, Kathi Canese, Jessica Chan, Donald C Comeau, Catherine M Farrell, Michael Feldgarden, Anna M Fine, Kathryn Funk, Eneida Hatcher, Sivakumar Kannan, Christopher Kelly, Sunghwan Kim, William Klimke, Melissa J Landrum, Stacy Lathrop, Zhiyong Lu, Thomas L Madden, Adriana Malheiro, Aron Marchler-Bauer, Terence D Murphy, Lon Phan, Shashikant Pujar, Sanjida H Rangwala, Valerie A Schneider, Tony Tse, Jiyao Wang, Jian Ye, Barton W Trawick, Kim D Pruitt, Stephen T Sherry
Publikováno v:
Nucleic Acids Res
The National Center for Biotechnology Information (NCBI) provides online information resources for biology, including the GenBank® nucleic acid sequence database and the PubMed® database of citations and abstracts published in life science journals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a57078e0f67eb3b452a111fba83e1926
https://europepmc.org/articles/PMC9825438/
https://europepmc.org/articles/PMC9825438/
Autor:
Rama Maiti, Chao Chen, Douglas W. Hoffman, J. Bradley Holmes, Donna Maglott, Joseph Mitchell, Baoshan Gu, Garth Brown, Melissa J. Landrum, Brandi L. Kattman, Vitaly Lyoshin, Kuljeet Kaur, George Zhou, George R. Riley, Wonhee Jang, Jennifer Hart, Nuala A. O'Leary, Chunlei Liu, Valerie A. Schneider, Shanmuga Chitipiralla, Wenyao Shi, Zenith Maddipatla
Publikováno v:
Nucleic Acids Research. 48:D835-D844
ClinVar is a freely available, public archive of human genetic variants and interpretations of their relationships to diseases and other conditions, maintained at the National Institutes of Health (NIH). Submitted interpretations of variants are aggr
Autor:
Sharon E. Plon, Lillian Ashmore, Aleksandar Milosavljevic, Peter B. McGarvey, Jimmy Zhen, Selina S. Dwight, Chris Bizon, Bradford C. Powell, Neethu Shah, Robert R. Freimuth, Clinical Genome (ClinGen) Resource, Piotr Pawliczek, Tristan Nelson, Matthew Wright, Ronak Y. Patel, Melissa J. Landrum, Sameer Paithankar, Andrew R. Jackson, Larry Babb, Natasha T. Strande
Publikováno v:
Human Mutation
Effective exchange of information about genetic variants is currently hampered by the lack of readily available globally unique variant identifiers that would enable aggregation of information from different sources. The ClinGen Allele Registry addre
Autor:
Jennifer M. Lee, George R. Riley, Chen Chao, Kurt McDaniel, Brandi L. Kattman, Donna Maglott, Zenith Maddipatla, Melissa J. Landrum, Baoshan Gu, Douglas W. Hoffman, Kenneth S. Katz, Garth Brown, J. Bradley Holmes, Mark L. Benson, George Zhou, Karen Karapetyan, Chunlei Liu, Shanmuga Chitipiralla, Michael Ovetsky, Malheiro Aj, Wonhee Jang, Jennifer Hart
Publikováno v:
Nucleic Acids Research
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical sig
Autor:
Juliann M. Savatt, Brandi L. Kattman, David H. Ledbetter, Melissa J. Landrum, Christa Lese Martin, W. Andrew Faucett, Jo Anne Vidal, Heidi L. Rehm, Jennifer Hart, Jud Rhode, Stefanie Turner, Emily Palen, Karen E. Wain, Vanessa Rangel Miller, Danielle R. Azzariti, Steven M. Harrison, Erin Rooney Riggs
GenomeConnect, the NIH-funded Clinical Genome Resource (ClinGen) patient registry, engages patients in data sharing to support the goal of creating a genomic knowledge base to inform clinical care and research. Participant self-reported health inform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::445be7de51d7da29ef235a6025c28d4a
https://europepmc.org/articles/PMC6188701/
https://europepmc.org/articles/PMC6188701/
Autor:
Wonhee Jang, Melissa J. Landrum, Kuljeet Kaur, Vitaly Lyoshin, Andrew Russette, Chao Chen, Zenith Maddipatla, Baoshan Gu, Shanmuga Chitipiralla, Joseph Mitchell, Brandi L. Kattman, Douglas W. Hoffman
Publikováno v:
Molecular Genetics and Metabolism. 132:S150
Autor:
Barbara Robbertse, Patrick Masterson, Jinna Choi, Sanjida H. Rangwala, Vyacheslav Brover, Olga Blinkova, Stacy Ciufo, Kim D. Pruitt, Conrad L. Schoch, Daniel H. Haft, Kelly M. McGarvey, Richard McVeigh, Raymond E. Tully, Bhanu Rajput, Alexander Astashyn, Vinita Joardar, Wratko Hlavina, Vamsi K. Kodali, Kathleen O'Neill, Danso Ako-adjei, Hanzhen Sun, Craig Wallin, Mathew W. Wright, Michael DiCuccio, Daniel Rausch, Catherine M. Farrell, Susan S. Storz, Avi Kimchi, Terence Murphy, Tripti Gupta, Eneida L. Hatcher, Donna Maglott, Shashikant Pujar, Brian Smith-White, David Webb, Nuala A. O'Leary, Wenjun Li, Michael R. Murphy, Igor Tolstoy, Françoise Thibaud-Nissen, Diana Haddad, Olga Ermolaeva, Azat Badretdin, Andrei Shkeda, Lillian D. Riddick, Tatiana Tatusova, Wendy Wu, Melissa J. Landrum, Vyacheslav Chetvernin, Tamara Goldfarb, Anjana R. Vatsan, Paul Kitts, J. Rodney Brister, Yiming Bao, Eric Cox
Publikováno v:
Nucleic Acids Research
The RefSeq project at the National Center for Biotechnology Information (NCBI) maintains and curates a publicly available database of annotated genomic, transcript, and protein sequence records (http://www.ncbi.nlm.nih.gov/refseq/). The RefSeq projec
Autor:
Fiona Hyland, Elizabeth A. Worthey, Mollie Ullman-Cullere, Ira M. Lubin, John D. Pfeifer, Karl V. Voelkerding, Edward R. Lockhart, Gabor T. Marth, Shaun Cordes, Alexander Wait Zaranek, Deanna M. Church, Dennis G. Ballinger, Himani Bisht, Karen Eilbeck, R Truty, Nazneen Aziz, Lisa V. Kalman, Zivana Tezak, Heidi L. Rehm, Lawrence J. Babb, Donna Maglott, Justin M. Zook, Melissa J. Landrum, Somak Roy
A national workgroup convened by the Centers for Disease Control and Prevention identified principles and made recommendations for standardizing the description of sequence data contained within the variant file generated during the course of clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e2cfff6ddd9b1a96eb0ca0e01820c59
https://europepmc.org/articles/PMC5417043/
https://europepmc.org/articles/PMC5417043/
Autor:
Danielle R. Azzariti, Steven M. Harrison, Jennifer M. Lee, Erin Rooney Riggs, Erin M. Ramos, Donna Maglott, Annie Niehaus, Melissa J. Landrum, Heidi L. Rehm, Christa Lese Martin
Publikováno v:
Current Protocols in Human Genetics
ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant, displays