DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

De novo mutations (DNMs) are an important cause of genetic disorders. The accurate identification of DNMs from sequencing data is therefore fundamental to rare disease research and diagnostics. Unfortunately, identifying reliable DNMs remains a major challenge due to sequence errors, uneven coverage...

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Detalles Bibliográficos
Autores principales: Khazeeva, Gelana, Sablauskas, Karolis, van der Sanden, Bart, Steyaert, Wouter, Kwint, Michael, Rots, Dmitrijs, Hinne, Max, van Gerven, Marcel, Yntema, Helger, Vissers, Lisenka, Gilissen, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Methods Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508836/
https://www.ncbi.nlm.nih.gov/pubmed/35713566
http://dx.doi.org/10.1093/nar/gkac511

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508836/
https://www.ncbi.nlm.nih.gov/pubmed/35713566
http://dx.doi.org/10.1093/nar/gkac511

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