A deep-learning-based RNA-seq germline variant caller

SUMMARY: RNA sequencing (RNA-seq) can be applied to diverse tasks including quantifying gene expression, discovering quantitative trait loci and identifying gene fusion events. Although RNA-seq can detect germline variants, the complexities of variable transcript abundance, target capture and amplif...

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Detalles Bibliográficos
Autores principales: Cook, Daniel E, Venkat, Aarti, Yelizarov, Dennis, Pouliot, Yannick, Chang, Pi-Chuan, Carroll, Andrew, De La Vega, Francisco M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320079/
https://www.ncbi.nlm.nih.gov/pubmed/37416509
http://dx.doi.org/10.1093/bioadv/vbad062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320079/
https://www.ncbi.nlm.nih.gov/pubmed/37416509
http://dx.doi.org/10.1093/bioadv/vbad062

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