ClinVar: public archive of interpretations of clinically relevant variants.

作者: Melissa J. Landrum , Jennifer M. Lee , Mark Benson , Garth Brown , Chen Chao

DOI: 10.1093/NAR/GKV1222

关键词: Accession number (bioinformatics)Web pageUploadData set (IBM mainframe)BiologyInformation retrievalBioinformaticsMEDLINEUniProtWizardXML

摘要: ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar/ ) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of …

参考文章(15)
Tudor Groza, Sebastian Köhler, Dawid Moldenhauer, Nicole Vasilevsky, Gareth Baynam, Tomasz Zemojtel, Lynn Marie Schriml, Warren Alden Kibbe, Paul N Schofield, Tim Beck, Drashtti Vasant, Anthony J Brookes, Andreas Zankl, Nicole L Washington, Christopher J Mungall, Suzanna E Lewis, Melissa A Haendel, Helen Parkinson, Peter N Robinson, None, The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease American Journal of Human Genetics. ,vol. 97, pp. 111- 124 ,(2015) , 10.1016/J.AJHG.2015.05.020
Ana Rath, Annie Olry, Ferdinand Dhombres, Maja Miličić Brandt, Bruno Urbero, Segolene Ayme, Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Human Mutation. ,vol. 33, pp. 803- 808 ,(2012) , 10.1002/HUMU.22078
Kimberly A. Tryka, Luning Hao, Anne Sturcke, Yumi Jin, Zhen Y. Wang, Lora Ziyabari, Moira Lee, Natalia Popova, Nataliya Sharopova, Masato Kimura, Michael Feolo, NCBI’s Database of Genotypes and Phenotypes: dbGaP Nucleic Acids Research. ,vol. 42, pp. 975- 979 ,(2014) , 10.1093/NAR/GKT1211
Carlo Castellani, CFTR2 team, CFTR2: How will it help care? Paediatric Respiratory Reviews. ,vol. 14, pp. 2- 5 ,(2013) , 10.1016/J.PRRV.2013.01.006
J. P. Plazzer, R. H. Sijmons, M. O. Woods, P. Peltomäki, B. Thompson, J. T. Den Dunnen, F. Macrae, The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome Familial Cancer. ,vol. 12, pp. 175- 180 ,(2013) , 10.1007/S10689-013-9616-0
Michael S Watson, Garry R Cutting, Robert J Desnick, Deborah A Driscoll, Katherine Klinger, Michael Mennuti, Glenn E Palomaki, Bradley W Popovich, Victoria M Pratt, Elizabeth M Rohlfs, Charles M Strom, C Sue Richards, David R Witt, Wayne W Grody, None, Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel Genetics in Medicine. ,vol. 6, pp. 387- 391 ,(2004) , 10.1097/01.GIM.0000139506.11694.7C
David L Wheeler, Deanna M Church, Ron Edgar, Scott Federhen, Wolfgang Helmberg, Thomas L Madden, Joan U Pontius, Gregory D Schuler, Lynn M Schriml, Edwin Sequeira, Tugba O Suzek, Tatiana A Tatusova, Lukas Wagner, None, Database resources of the National Center for Biotechnology Information: update Nucleic Acids Research. ,vol. 32, pp. 35D- 40 ,(2004) , 10.1093/NAR/GKH073
Christopher J. Mungall, Colin Batchelor, Karen Eilbeck, Evolution of the Sequence Ontology terms and relationships Journal of Biomedical Informatics. ,vol. 44, pp. 87- 93 ,(2011) , 10.1016/J.JBI.2010.03.002