The year of 2018 marks the 65th anniversary of the discovery of DNA double helix and the 15th anniversary of the successful completion of the international Human Genome Project (HGP),the two revolutions in life scienc...The year of 2018 marks the 65th anniversary of the discovery of DNA double helix and the 15th anniversary of the successful completion of the international Human Genome Project (HGP),the two revolutions in life sciences (Sharp, 2014). The year also sees the effective implementation of the "1%Program", the Chinese contribution to the reference sequence of the human genome,which coincides with the 40th anniversary of the founding of the Genetics Society of China, one of the most influential national academic organizations in China.展开更多
Gene mutation(e.g.substitution,insertion and deletion)and related phenotype information are important bio-medical knowledge.Many biomedical databases(e.g.OMIM)incorporate such data.However,few studies have examined th...Gene mutation(e.g.substitution,insertion and deletion)and related phenotype information are important bio-medical 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 cor-responding reference sequences align with the muta-tion 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.展开更多
文摘The year of 2018 marks the 65th anniversary of the discovery of DNA double helix and the 15th anniversary of the successful completion of the international Human Genome Project (HGP),the two revolutions in life sciences (Sharp, 2014). The year also sees the effective implementation of the "1%Program", the Chinese contribution to the reference sequence of the human genome,which coincides with the 40th anniversary of the founding of the Genetics Society of China, one of the most influential national academic organizations in China.
基金supported by grants from the Talents Develop-mental Fund of Shanghai in 2011 to ZF Li and the National High Technology Research and Development Program of China(863 Program)to XY Zhang(Grant Nos.2007AA02Z332 and 2008AA02Z126).
文摘Gene mutation(e.g.substitution,insertion and deletion)and related phenotype information are important bio-medical 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 cor-responding reference sequences align with the muta-tion 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.
