Document Detail

The curation of genetic variants: difficulties and possible solutions.
MedLine Citation:
PMID:  23317699     Owner:  NLM     Status:  In-Data-Review    
The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods.
Kapil Raj Pandey; Narendra Maden; Barsha Poudel; Sailendra Pradhananga; Amit Kumar Sharma
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Publication Detail:
Type:  Journal Article     Date:  2012-11-29
Journal Detail:
Title:  Genomics, proteomics & bioinformatics     Volume:  10     ISSN:  1672-0229     ISO Abbreviation:  Genomics Proteomics Bioinformatics     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2013-01-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101197608     Medline TA:  Genomics Proteomics Bioinformatics     Country:  China    
Other Details:
Languages:  eng     Pagination:  317-25     Citation Subset:  IM    
Copyright Information:
Copyright © 2012. Published by Elsevier Ltd.
Deerwalk Services, Kathmandu 44602, Nepal; Department of Microbiology, Bangalore University, Bangalore 560001, India.
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