Search Results - "Mosaic variants"

Backtracking Cell Phylogenies in the Human Brain with Somatic Mosaic Variants

Bizzotto, Sara^{Aff4, Aff5}

García-Marqués, Jorge^Aff2, Lee, Tzumin^Aff3, Walker, John M.^Aff1

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations

M. Tooming, P. Mertsina, T. Kahre, R. Teek, I. Vainumäe, S. Lilles, M. H. Wojcik, P. Ilves, K. Õunap

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Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex

Jing Duan, Shirang Pan, Yuanzhen Ye, Zhanqi Hu, Li Chen, Dachao Liang, Tao Fu, Lintao Zhan, Zhuo Li, Jianxiang Liao, Xia Zhao

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Brain somatic mosaicism in epilepsy: Bringing results back to the clinic

Alissa M. D'Gama, Annapurna Poduri

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Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

Jeffrey N. Dudley, Celine S. Hong, Marwan A. Hawari, Jasmine Shwetar, Julie C. Sapp, Justin Lack, Henoke Shiferaw, NISC Comparative Sequencing Program, Jennifer J. Johnston, Leslie G. Biesecker

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Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients

Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Morreau, Hans, Hes, Frederik J., van Wezel, Tom^{Aff1, IDs10689021002362_cor6}

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing

Siyu Wang, Hairui Sun, Jianbin Wang, Xiaoyan Gu, Lu Han, Yuduo Wu, He Yan, Ling Han, Hongjia Zhang, Yihua He

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Female X-linked Alport syndrome with somatic mosaicism

Yokota, Kana, Nozu, Kandai, Minamikawa, Shogo, Yamamura, Tomohiko, Nakanishi, Keita, Kaneda, Hisashi, Hamada, Riku, Nozu, Yoshimi, Shono, Akemi, Ninchoji, Takeshi, Morisada, Naoya, Ishimori, Shingo, Fujimura, Junya, Horinouchi, Tomoko, Kaito, Hiroshi, Nakanishi, Koichi, Morioka, Ichiro, Taniguchi-Ikeda, Mariko, Iijima, Kazumoto

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