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Advanced Interpretable Machine Learning Methods for Clinical NGS Big Data of Complex Hereditary Diseases
Year of Publication 2020
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Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain
Sánchez‐Monteagudo, Ana, Álvarez‐Sauco, María, Sastre, Isabel, Martínez‐Torres, Irene, Lupo, Vincenzo, Berenguer, Marina, Espinós, Carmen
Published in Clinical genetics (01.05.2020)
Published in Clinical genetics (01.05.2020)
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Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction
Fujita, Shingo, Horitani, Emi, Miyashita, Yohei, Fujita, Yukari, Fukui, Kenji, Kamada, Yoshihiro, Mineo, Ikuo, Asano, Yoshihiro, Iwahashi, Hiromi, Kozawa, Junji, Shimomura, Iichiro
Published in Journal of the Endocrine Society (01.03.2022)
Published in Journal of the Endocrine Society (01.03.2022)
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Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration
Huan, Tianxiao, Cheng, Shun-Yun, Tian, Bo, Punzo, Claudio, Lin, Haijiang, Daly, Mark, Seddon, Johanna M.
Published in Ophthalmology science (Online) (01.03.2023)
Published in Ophthalmology science (Online) (01.03.2023)
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Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer's Disease Sequencing Project
Naj, Adam C, Lin, Honghuang, Vardarajan, Badri N, White, Simon, Lancour, Daniel, Ma, Yiyi, Schmidt, Michael, Sun, Fangui, Butkiewicz, Mariusz, Bush, William S, Kunkle, Brian W, Malamon, John, Amin, Najaf, Choi, Seung H, Hamilton-Nelson, Kara L, Sven J Van Der Lee, Gupta, Namrata, Koboldt, Daniel C, Saad, Mohamad, Bowen, Wang, Nato, Alejandro Q, Sohi, Harkirat K, Kuzma, Amanda, Alzheimer's Disease Sequencing Project (Adsp), Li-San, Wang, Cupples, L Adrienne, Cornelia Van Duijn, Seshadri, Sudha, Schellenberg, Gerard D, Boerwinkle, Eric, Bis, Joshua C, Dupuis, Josee, Salerno, William J, Wijsman, Ellen M, Eden, Martin, Destefano, Anita L
Published in bioRxiv (11.05.2018)
Published in bioRxiv (11.05.2018)
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