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PacMAGI: A pipeline including accurate indel detection for the analysis of PacBio sequencing data applied to RPE65.

Gene - 20 Jul 2022

Sorrentino Elisa, Albion Elena, Modena Chiara, Daja Muharrem, Cecchin Stefano, Paolacci Stefano, Miertus Jan, Bertelli Matteo, Maltese Paolo Enrico, Chiurazzi Pietro, Stuppia Liborio, Colombo Leonardo, Marceddu Giuseppe

Abstract excerpt

Third generation sequencing methods, like PacBio, provide information about structural variants, introns, enhancers and promoters. We developed an automated pipeline, called PacMAGI, including quality control, alignment, SNV, INDELs, structural variant calling, phasing, annotation and variant interpretation, for the analysis of PacBio data for any target region. Bi-allelic mutations in the RPE65 gene are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35569774
DOI: 10.1016/j.gene.2022.146554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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