Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/15760
Título
Clinical variant interpretation and biologically relevant reference transcripts.
Autor(es)
Fecha de publicación
2022-10-18
Cita
NPJ Genom Med. 2022 Oct 18;7(1):59
Idioma
Inglés
Tipo de documento
journal article
Resumen
Clinical variant interpretation is highly dependent on the choice of reference transcript. Although the longest transcript has traditionally been chosen as the reference, APPRIS principal and MANE Select transcripts, biologically supported reference sequences, are now available. In this study, we show that MANE Select and APPRIS principal transcripts are the best reference transcripts for clinical variation. APPRIS principal and MANE Select transcripts capture almost all ClinVar pathogenic variants, and they are particularly powerful over the 94% of coding genes in which they agree. We find that a vanishingly small number of ClinVar pathogenic variants affect alternative protein products. Alternative isoforms that are likely to be clinically relevant can be predicted using TRIFID scores, the highest scoring alternative transcripts are almost 700 times more likely to house pathogenic variants. We believe that APPRIS, MANE and TRIFID are essential tools for clinical variant interpretation.
Versión en línea
DOI
Aparece en las colecciones
Ficheros en el ítem
![Acceso Abierto Acceso Abierto](/themes/Mirage2/images/openAccess.png)
- Nombre:
- Clinical variant interpretation ...
- Tamaño:
- 2.252Mb
- Formato:
- Descripción:
- Artículo