Structural variation across 138,134 samples in the TOPMed consortium

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Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a balance between comprehensiveness and precision....

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Autores principales: Jun, Goo, English, Adam C, Metcalf, Ginger A, Yang, Jianzhi, Chaisson, Mark JP, Pankratz, Nathan, Menon, Vipin K, Salerno, William J, Krasheninina, Olga, Smith, Albert V, Lane, John A, Blackwell, Tom, Kang, Hyun Min, Salvi, Sejal, Meng, Qingchang, Shen, Hua, Pasham, Divya, Bhamidipati, Sravya, Kottapalli, Kavya, Arnett, Donna K., Ashley-Koch, Allison, Auer, Paul L., Beutel, Kathleen M, Bis, Joshua C., Blangero, John, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chen, Yii-Der Ida, Cho, Michael H., Curran, Joanne E., Fornage, Myriam, Freedman, Barry I., Fingerlin, Tasha, Gelb, Bruce D., Hou, Lifang, Hung, Yi-Jen, Kane, John P, Kaplan, Robert, Kim, Wonji, Loos, Ruth J.F., Marcus, Gregory M, Mathias, Rasika A., McGarvey, Stephen T., Montgomery, Courtney, Naseri, Take, Nouraie, S. Mehdi, Preuss, Michael H., Palmer, Nicholette D., Peyser, Patricia A., Raffield, Laura M., Ratan, Aakrosh, Redline, Susan, Reupena, Sefuiva, Rotter, Jerome I., Rich, Stephen S., Rienstra, Michiel, Ruczinski, Ingo, Sankaran, Vijay G., Schwartz, David A., Seidman, Christine E., Seidman, Jonathan G., Silverman, Edwin K., Smith, Jennifer A., Stilp, Adrienne, Taylor, Kent D., Telen, Marilyn J., Weiss, Scott T., Williams, L. Keoki, Wu, Baojun, Yanek, Lisa R., Zhang, Yingze, Lasky-Su, Jessica, Gingras, Marie Claude, Dutcher, Susan K., Eichler, Evan E., Gabriel, Stacey, Germer, Soren, Kim, Ryan, Viaud-Martinez, Karine A., Nickerson, Deborah A., Luo, James, Reiner, Alex, Gibbs, Richard A, Boerwinkle, Eric, Abecasis, Goncalo, Sedlazeck, Fritz J
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/PMC9900832/
https://www.ncbi.nlm.nih.gov/pubmed/36747810
http://dx.doi.org/10.1101/2023.01.25.525428

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