EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

BACKGROUND: Genomic variant prioritisation is one of the most significant bottlenecks to mainstream genomic testing in healthcare. Tools to improve precision while ensuring high recall are critical to successful mainstream clinical genomic testing, in particular for whole genome sequencing where mil...

Descripción completa

Detalles Bibliográficos
Autores principales: Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Black, Graeme C, Ellingford, Jamie M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423522/
https://www.ncbi.nlm.nih.gov/pubmed/36669873
http://dx.doi.org/10.1136/jmg-2022-108618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423522/
https://www.ncbi.nlm.nih.gov/pubmed/36669873
http://dx.doi.org/10.1136/jmg-2022-108618

Ejemplares similares