An examination of the OMIM database for associating mutation to a consensus reference sequence.

Abstract:

:Gene mutation (e.g. substitution, insertion and deletion) and related phenotype information are important biomedical knowledge. Many biomedical databases (e.g. OMIM) incorporate such data. However, few studies have examined the quality of this data. In the current study, we examined the quality of protein single-point mutations in the OMIM and identified whether the corresponding reference sequences align with the mutation positions. Our results show that close to 20% of mutation data cannot be mapped to a single reference sequence. The failed mappings are caused by position conflict, site shifting (peptide, N-terminal methionine) and other types of data error. We propose a preliminary model to resolve such inconsistency in the OMIM database.

journal_name

Protein Cell

journal_title

Protein & cell

authors

Li Z,Ying B,Liu X,Zhang X,Yu H

doi

10.1007/s13238-012-2037-2

subject

Has Abstract

pub_date

2012-03-01 00:00:00

pages

198-203

issue

3

eissn

1674-800X

issn

1674-8018

journal_volume

3

pub_type

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