Analysis of human mRNAs with the reference genome sequence reveals potential errors, polymorphisms, and RNA editing.

ABSTRACT: The NCBI Reference Sequence (RefSeq) project and the NIH Mammalian Gene Collection (MGC) together define a set of approximately 30,000 nonredundant human mRNA sequences with identified coding regions representing 17,000 distinct loci. These high-quality mRNA sequences allow for the identification of transcribed regions in the human genome sequence, and many researchers accept them as the correct representation of each defined gene sequence. Computational comparison of these mRNA sequences and the recently published essentially finished human genome sequence reveals several thousand undocumented nonsynonymous substitution and frame shift discrepancies between the two resources. Additional analysis is undertaken to verify that the euchromatic human genome is sufficiently complete--containing

SUBMITTER: Furey TS 

PROVIDER: S-EPMC528917 | biostudies-literature | 2004 Oct

REPOSITORIES: biostudies-literature