A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

Summary: Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion PVS1). The exact nature and predictability of spl...

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Principais autores:	Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2024-07-01
Serija:	HGG Advances
Teme:	transcriptomics RNA sequencing splicing genetic testing variant interpretation genetic counseling
Online dostop:	http://www.sciencedirect.com/science/article/pii/S2666247724000381
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