Curated variation benchmarks for challenging medically-relevant autosomal genes

The repetitive nature and complexity of some medically relevant genes poses a challenge for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has provided variant benchmark sets, but these exclude nearly four hundred medically relevant genes due to their repetitiveness...

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Detalles Bibliográficos
Autores principales: Wagner, Justin, Olson, Nathan D, Harris, Lindsay, McDaniel, Jennifer, Cheng, Haoyu, Fungtammasan, Arkarachai, Hwang, Yih-Chii, Gupta, Richa, Wenger, Aaron M, Rowell, William J, Khan, Ziad M, Farek, Jesse, Zhu, Yiming, Pisupati, Aishwarya, Mahmoud, Medhat, Xiao, Chunlin, Yoo, Byunggil, Sahraeian, Sayed Mohammad Ebrahim, Miller, Danny E., Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Narzisi, Giuseppe, Evani, Uday Shanker, Clarke, Wayne E., Lee, Joyce, Mason, Christopher E., Lincoln, Stephen E., Miga, Karen H., Ebbert, Mark T. W., Shumate, Alaina, Li, Heng, Chin, Chen-Shan, Zook, Justin M, Sedlazeck, Fritz J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117392/
https://www.ncbi.nlm.nih.gov/pubmed/35132260
http://dx.doi.org/10.1038/s41587-021-01158-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117392/
https://www.ncbi.nlm.nih.gov/pubmed/35132260
http://dx.doi.org/10.1038/s41587-021-01158-1

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