Comparative analysis of human genome assemblies reveals genome-level differences.
Previous comparative analysis has revealed a significant disparity between the predicted gene sets produced by the International Human Genome Sequencing Consortium (HGSC) and Celera Genomics. To determine whether the source of this discrepancy was due to underlying differences in the genomic sequences or different gene prediction methodologies, we analyzed both genome assemblies in parallel. Using the GENSCAN gene prediction algorithm, we generated predicted transcriptomes that could be directly compared. BLAST-based comparisons revealed a 20-30% difference between the transcriptomes. Further differences between the two genomes were revealed with protein domain PFAM analyses. These results suggest that fundamental differences between the two genome assemblies are likely responsible for a significant portion of the discrepancy between the transcript sets predicted by the two groups.
Li
Shuyu
S
Tularik, Inc. Two Corporate Drive, South San Francisco, California 94080, USA.
Liao
Jiayu
J
Cutler
Gene
G
Hoey
Timothy
T
Hogenesch
John B
JB
Cooke
Michael P
MP
Schultz
Peter G
PG
Ling
Xuefeng Bruce
XB
D002874:Chromosome Mapping / Q000379:methods*; D015894:Genome, Human; D006801:Humans; D008390:Markov Chains