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Comparative analysis of human genome assemblies reveals genome-level differences.

机译:对人类基因组装配的比较分析揭示了基因组水平的差异。

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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.
机译:先前的比较分析显示,国际人类基因组测序协会(HGSC)和Celera Genomics生产的预测基因集之间存在显着差异。为了确定这种差异的根源是由于基因组序列的根本差异还是由于不同的基因预测方法,我们并行分析了两个基因组组装。使用GENSCAN基因预测算法,我们生成了可以直接比较的预测转录组。基于BLAST的比较显示,转录组之间存在20-30%的差异。通过蛋白质域PFAM分析揭示了两个基因组之间的进一步差异。这些结果表明,两个基因组组装之间的根本差异可能是造成两组预测的转录本之间差异的很大部分。

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