Developing a variant calling pipeline for ribosomal DNA

Jiménez Lupiáñez, Alba

Developing a variant calling pipeline for ribosomal DNA

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Citation

Jiménez Lupiáñez, A. Developing a variant calling pipeline for ribosomal DNA. 2024. handle: http://hdl.handle.net/10230/68913

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Abstract

Ribosomal DNA (rDNA) is vital due to its role in protein translation, however, the high GC content and repetitiveness of the regions where they are encoded make it difficult to sequence and analyze. This study developed a pipeline to analyze rDNA variability, tested on simulated reads due to limited rDNA data. The pipeline achieved a high F1 score of 0.9358 and was validated with whole genome sequencing reads from the T2T-CHM13