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Establishment of reference standards for multifaceted mosaic variant analysis

Detection of somatic mosaicism in non-proliferative cells is a new challenge in genome research, however, the accuracy of current detection strategies remains uncertain due to the lack of a ground truth. Herein, we sought to present a set of ultra-deep sequenced WES data based on reference standards...

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Detalles Bibliográficos
Autores principales: Ha, Yoo-Jin, Oh, Myung Joon, Kim, Junhan, Kim, Jisoo, Kang, Seungseok, Minna, John D., Kim, Hyun Seok, Kim, Sangwoo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8813952/
https://www.ncbi.nlm.nih.gov/pubmed/35115554
http://dx.doi.org/10.1038/s41597-022-01133-8