A broad ecosystem of resources, databases, and systems to analyze cancer variations is present in the literature. These are a strategic element in the interpretation of NGS experiments. However, the intrinsic wealth of data from RNA-seq, ChipSeq, and DNA-seq can be fully exploited only with the proper skill and knowledge. In this chapter, we survey relevant literature concerning databases, annotators, and variant prioritization tools.

Computational Resources for the Interpretation of Variations in Cancer

Privitera, Grete Francesca
Primo
;
Alaimo, Salvatore
Secondo
;
Ferro, Alfredo
Penultimo
;
Pulvirenti, Alfredo
Ultimo
2022-01-01

Abstract

A broad ecosystem of resources, databases, and systems to analyze cancer variations is present in the literature. These are a strategic element in the interpretation of NGS experiments. However, the intrinsic wealth of data from RNA-seq, ChipSeq, and DNA-seq can be fully exploited only with the proper skill and knowledge. In this chapter, we survey relevant literature concerning databases, annotators, and variant prioritization tools.
2022
978-3-030-91835-4
978-3-030-91836-1
DNA alterations
DNA-Seq
Mutations
NGS
RNA-Seq
Variant annotation
Variant databases
Variant interpretation
Variant pathogenicity assessment
Variant prioritization
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/580473
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