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Journal Article
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 02/2018, Volume 19, Issue 1, pp. 57 - 13
Background: Prioritization of sequence variants for diagnosis and discovery of Mendelian diseases is challenging, especially in large collections of whole... 
Variants of uncertain significance | Human genome | Variant prioritization | Genomics | GUIDELINES | BIOCHEMICAL RESEARCH METHODS | SEQUENCE VARIANTS | MODEL | IDENTIFICATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | MATHEMATICAL & COMPUTATIONAL BIOLOGY | FRAMEWORK | PROTEIN FUNCTION | ASSOCIATION | Usage | Analysis | Science | Research | Computational biology | Computer programs
Journal Article
Human Mutation, ISSN 1059-7794, 08/2018, Volume 39, Issue 8, pp. 1051 - 1060
ClinVar Miner is a Web‐based suite that utilizes the data held in the National Center for Biotechnology Information's ClinVar archive. The goal is to render... 
expert panel | clinical domain working group | variant curation | ClinVar | variant archive | variant interpretation | VARIANTS | GENETICS & HEREDITY | AMERICAN-COLLEGE | MEDICAL GENETICS | CLINICAL GENOME RESOURCE | Conflict management | Web site management software | Biotechnology | Variant interpretation
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 02/2009, Volume 10, Issue 1, pp. 67 - 67
Journal Article
Journal of Biomedical Informatics, ISSN 1532-0464, 2011, Volume 44, Issue 1, pp. 87 - 93
The Sequence Ontology is an established ontology, with a large user community, for the purpose of genomic annotation. We are reforming the ontology to provide... 
Genome annotation | Biomedical ontology | Sequence Ontology | COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS | MEDICAL INFORMATICS | UNIFICATION | TOOL | Databases, Genetic | Biomedical Research | Sequence Analysis, DNA | Genes | Humans | Documentation | genome annotation | biomedical ontology
Journal Article
Genome Biology, ISSN 1474-7596, 05/2016, Volume 17, Issue 1, p. 111
Journal Article
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1569 - 1580
Journal Article
by J. Craig Venter and Mark D. Adams and Eugene W. Myers and Peter W. Li and Richard J. Mural and Granger G. Sutton and Hamilton O. Smith and Mark Yandell and Cheryl A. Evans and Robert A. Holt and Jeannine D. Gocayne and Peter Amanatides and Richard M. Ballew and Daniel H. Huson and Jennifer Russo Wortman and Qing Zhang and Chinnappa D. Kodira and Xiangqun H. Zheng and Lin Chen and Marian Skupski and Gangadharan Subramanian and Paul D. Thomas and Jinghui Zhang and George L. Gabor Miklos and Catherine Nelson and Samuel Broder and Andrew G. Clark and Joe Nadeau and Victor A. McKusick and Norton Zinder and Arnold J. Levine and Richard J. Roberts and Mel Simon and Carolyn Slayman and Michael Hunkapiller and Randall Bolanos and Arthur Delcher and Ian Dew and Daniel Fasulo and Michael Flanigan and Liliana Florea and Aaron Halpern and Sridhar Hannenhalli and Saul Kravitz and Samuel Levy and Clark Mobarry and Knut Reinert and Karin Remington and Jane Abu-Threideh and Ellen Beasley and Kendra Biddick and Vivien Bonazzi and Rhonda Brandon and Michele Cargill and Ishwar Chandramouliswaran and Rosane Charlab and Kabir Chaturvedi and Zuoming Deng and Valentina Di Francesco and Patrick Dunn and Karen Eilbeck and Carlos Evangelista and Andrei E. Gabrielian and Weiniu Gan and Wangmao Ge and Fangcheng Gong and Zhiping Gu and Ping Guan and Thomas J. Heiman and Maureen E. Higgins and Rui-Ru Ji and Zhaoxi Ke and Karen A. Ketchum and Zhongwu Lai and Yiding Lei and Zhenya Li and Jiayin Li and Yong Liang and Xiaoying Lin and Fu Lu and Gennady V. Merkulov and Natalia Milshina and Helen M. Moore and Ashwinikumar K Naik and Vaibhav A. Narayan and Beena Neelam and Deborah Nusskern and Douglas B. Rusch and Steven Salzberg and Wei Shao and Bixiong Shue and Jingtao Sun and Zhen Yuan Wang and Aihui Wang and Xin Wang and Jian Wang and Ming-Hui Wei and Ron Wides and Chunlin Xiao and Chunhua Yan and ...
Science, ISSN 0036-8075, 2/2001, Volume 291, Issue 5507, pp. 1304 - 1351
Journal Article