Additional file 2 of Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
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Additional file 2: Table S1. Clinical features of four individuals with disease-causing NOTCH2NLC repeat expansions; Table S2. Summary statistics of Nanopore Cas9-based enrichment sequencing; Table S3. PacBio HiFi-read-based repeat composition; Table S4. Ratio of LCLs with nuclear inclusions in F3 and F4 families; Table S5. Percent methylation score in the F2 family; Table S6. Differentially methylated regions identified by Methylkit.
提供机构：
Fukuda, Hiromi; Morihara, Keisuke; Ohbo, Kazuyuki; Matsumoto, Naomichi; Koshimizu, Eriko; Tsuchida, Naomi; Uchiyama, Yuri; Tanaka, Fumiaki; Wenger, Aaron M.; Shioda, Norifumi; Miyatake, Satoko; Doi, Hiroshi; Satake, Yuki; Mitsuhashi, Satomi; Yamaguchi, Daisuke; Mizuguchi, Takeshi; Okamoto, Tomoko; Hamanaka, Kohei; Saida, Ken; Nyquist, Kristofor; Fujita, Atsushi; Yabuki, Yasushi; Sone, Jun; Takahashi, Yuji
创建时间：
2021-11-14
