3 Result(s)
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Mariangela Santorsola
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Article
Open AccessTGS1 mediates 2,2,7-trimethyl guanosine cap** of the human telomerase RNA to direct telomerase dependent telomere maintenance
Pathways that direct the selection of the telomerase-dependent or recombination-based, alternative lengthening of telomere (ALT) maintenance pathway in cancer cells are poorly understood. Using human lung canc...
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Article
Open AccessA multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest
Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare var...
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Article
Open AccessExtraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data
Whole Exome Sequencing (WES) is one of the most used and cost-effective next generation technologies that allows sequencing of all nuclear exons. Off-target regions may be captured if they present high sequenc...
