Article

Impact of genome build on RNA-seq interpretation and diagnostics

2024-01-12

Abstract excerpt

<h4>Summary</h4> Transcriptomics is a powerful tool for unraveling the molecular effects of genetic variants and disease diagnosis. Prior studies have demonstrated that choice of genome build impacts variant interpretation and diagnostic yield for genomic analyses. To identify the extent genome build also impacts transcriptomics analyses, we studied the effect of the hg19, hg38, and CHM13 genome builds on expressi...

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Literature Corpus work: 655d47c6-cce5-58d7-8fe5-467a7a655f37
DOI: 10.1101/2024.01.11.24301165

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