Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome, and transcriptome sequencing approach, which enables accurate...

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Detalles Bibliográficos
Autores principales: Vollger, Mitchell R., Korlach, Jonas, Eldred, Kiara C., Swanson, Elliott, Underwood, Jason G., Cheng, Yong-Han H., Ranchalis, Jane, Mao, Yizi, Blue, Elizabeth E., Schwarze, Ulrike, Munson, Katherine M., Saunders, Christopher T., Wenger, Aaron M., Allworth, Aimee, Chanprasert, Sirisak, Duerden, Brittney L., Glass, Ian, Horike-Pyne, Martha, Kim, Michelle, Leppig, Kathleen A., McLaughlin, Ian J., Ogawa, Jessica, Rosenthal, Elisabeth A., Sheppeard, Sam, Sherman, Stephanie M., Strohbehn, Samuel, Yuen, Amy L., Reh, Thomas A., Byers, Peter H., Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Sancak, Yasemin, Dipple, Katrina M., Stergachis, Andrew B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557686/
https://www.ncbi.nlm.nih.gov/pubmed/37808736
http://dx.doi.org/10.1101/2023.09.26.559521

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