Prediction and assessment of splicing alterations: implications for clinical testing

Sequence variants that may result in splicing alterations are a particular class of inherited variants for which consequences can be more readily assessed, using a combination of bioinformatic prediction methods and in vitro assays. There is also a general agreement that a variant would invariably b...

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Veröffentlicht in:	Human mutation 2008-11, Vol.29 (11), p.1304-1313
Hauptverfasser:	Spurdle, Amanda B, Couch, Fergus J, Hogervorst, Frans B.L, Radice, Paolo, Sinilnikova, Olga M
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Alternative Splicing bioinformatic prediction cancer Codon, Nonsense Computational Biology - methods Genes, Neoplasm Genetic Predisposition to Disease Genetic Testing - methods Genetic Variation Humans oncology Sequence Deletion splicing unclassified variant
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