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Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or hematopoietic disorders, the genome-wide contribution of structural variants to quan...

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Detalles Bibliográficos
Autores principales: Wheeler, Marsha M., Stilp, Adrienne M., Rao, Shuquan, Halldórsson, Bjarni V., Beyter, Doruk, Wen, Jia, Mihkaylova, Anna V., McHugh, Caitlin P., Lane, John, Jiang, Min-Zhi, Raffield, Laura M., Jun, Goo, Sedlazeck, Fritz J., Metcalf, Ginger, Yao, Yao, Bis, Joshua B., Chami, Nathalie, de Vries, Paul S., Desai, Pinkal, Floyd, James S., Gao, Yan, Kammers, Kai, Kim, Wonji, Moon, Jee-Young, Ratan, Aakrosh, Yanek, Lisa R., Almasy, Laura, Becker, Lewis C., Blangero, John, Cho, Michael H., Curran, Joanne E., Fornage, Myriam, Kaplan, Robert C., Lewis, Joshua P., Loos, Ruth J. F., Mitchell, Braxton D., Morrison, Alanna C., Preuss, Michael, Psaty, Bruce M., Rich, Stephen S., Rotter, Jerome I., Tang, Hua, Tracy, Russell P., Boerwinkle, Eric, Abecasis, Goncalo R., Blackwell, Thomas W., Smith, Albert V., Johnson, Andrew D., Mathias, Rasika A., Nickerson, Deborah A., Conomos, Matthew P., Li, Yun, Þorsteinsdóttir, Unnur, Magnússon, Magnús K., Stefansson, Kari, Pankratz, Nathan D., Bauer, Daniel E., Auer, Paul L., Reiner, Alex P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9732337/
https://www.ncbi.nlm.nih.gov/pubmed/36481753
http://dx.doi.org/10.1038/s41467-022-35354-7