Additional file 1 of Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
Makaleler > Tam Makale · 2022
Yazarlar: Hamanaka, Kohei, Miyake, Noriko, Mizuguchi, Takeshi, Miyatake, Satoko, Uchiyama, Yuri, Tsuchida, Naomi, Sekiguchi, Futoshi, Mitsuhashi, Satomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamada, Kohei, Sakamoto, Masamune, Fukuda, Hiromi, Ohori, Sachiko, Saida, Ken, Itai, Toshiyuki, Azuma, Yoshiteru, Koshimizu, Eriko, Fujita, Atsushi, Erturk, Biray, Hiraki, Yoko, Ch’ng, Gaik-Siew, Kato, Mitsuhiro, Okamoto, Nobuhiko, Takata, Atsushi, Matsumoto, Naomichi
Figshare, Uluslararası, 2022
DOI: 10.6084/m9.figshare.19656869.v1
Özet
Additional file 1. Supplementary Methods, Results and Figures. Figure S1. Calculation of mutation rates of < 1 Mb LOF CNVs per gene. Figure S2. Analyses of CNVs in WGS data of SSC ASD quads. Figure S3. CNV QC of YCU WES data. Figure S4. Comparison of the observed and expected numbers of DNMs in YCU, DDD31k, and denovo-db data. Figure S5. dnCNVs at the 380 DNM-enriched genes in SSC data. Figure S6. dnCNVs at the 380 DNM-enriched genes in YCU data. Figure S7. Plots of DNMs at the 52 DNM-enriched candidate genes. Figure S8. Enrichment of constrained genes in the 52 DNM-enriched candidate genes. Figure S9. Distributions of NN model scores in NC1 and PC1 training and NC2 and PC2 test gene sets.