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SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only expressed under certain conditions. These transcripts are often lacking from reference transcript sets, such as Ensembl/GENCODE and RefSeq, and could b...

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Detalles Bibliográficos
Autores principales:	Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E., Hoischen, Alexander, ’t Hoen, Peter A.C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Software
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10245480/ https://www.ncbi.nlm.nih.gov/pubmed/37280537 http://dx.doi.org/10.1186/s12864-023-09391-5

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