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Approcci computazionali per l’analisi del trascrittoma del cancro mediante RNA-Seq

Approcci computazionali per l’analisi del trascrittoma del cancro mediante RNA-Seq

Yuxiang Tan

64,81 €
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Editorial:
KS OmniScriptum Publishing
Año de edición:
2024
Materia
Informática: cuestiones generales
ISBN:
9786208502188
64,81 €
IVA incluido
Disponible

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L’RNA-Seq fornisce una piattaforma ideale per studiare l’insieme completo dei trascritti per uno specifico stadio di sviluppo o condizione fisiologica. Rivela non solo i cambiamenti a livello di espressione, ma anche i cambiamenti strutturali nelle sequenze codificanti, compresi i riarrangiamenti genici. In questa tesi presento il mio contributo allo sviluppo di strumenti computazionali per l’analisi robusta ed efficiente dei dati RNA-Seq a supporto della ricerca sul cancro. Per automatizzare la procedura laboriosa e computazionalmente intensiva della gestione dei dati RNA-Seq, ho lavorato allo sviluppo di Hydra, una pipeline RNA-Seq per l’elaborazione parallela e il controllo di qualità di un gran numero di campioni. Ho poi presentato QueryFuse, un nuovo algoritmo di rilevamento delle fusioni specifiche per i geni per i dati RNA-Seq allineati. È stato progettato per aiutare i biologi a trovare e/o convalidare computazionalmente le fusioni di interesse in modo rapido e ad annotare gli eventi rilevati con la visualizzazione e le proprietà dettagliate delle letture di supporto. Infine, ho contribuito all’identificazione di un nuovo evento di fusione nel linfoma, con potenziali implicazioni terapeutiche in campioni clinici. Ho convalidato questa fusione in silico e mediante validazione sperimentale.

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