• Journal Article

Inconsistencies between human genetic cytolocations and those derived using genomic sequence

Citation

Cuticchia, A., Kulkarni, R., Parris, W. E., Cooley, P., Hall, R. D., & Silk, G. (2006). Inconsistencies between human genetic cytolocations and those derived using genomic sequence. Cytogenetic and Genome Research, 112(1-2), 1-5.

Abstract

One result of the publishing of the human genome sequence is the ability to define objects through their position on the consensus sequence. While this has simplified the process of creating order maps for genes on a chromosome, it has created discrepancies between the published cytolocations of human genes, as presented through genetic references, and those locations derived computationally from the genomic sequence. For the 6,830 records with HUGO gene symbols shared between the online version of Mendelian Inheritance in Man and Ensembl, 18% of the records have a discrepancy of at least one cytogenetic band between the datasets. Discordance between data sets at this frequency would have a significant impact on the utility of datasets created by the amalgamation of numerous biological databases