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...

Descripción completa

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

Internet

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

Ejemplares similares