@article {901,
	title = {Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.},
	journal = {NPJ Genom Med},
	volume = {6},
	year = {2021},
	month = {2021 Feb 11},
	pages = {10},
	abstract = {<p>Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated high-coverage, whole-genome sequencing data from 1492 individuals and genome-wide SNP data from 103,106 individuals of Han Chinese ancestry using custom SNP arrays. Principal components analysis of the genotyping data showed that the full range of Han Chinese genetic variation was found in the cohort. The arrays also include thousands of known functional variants, allowing for simultaneous ascertainment of Mendelian disease-causing mutations and variants that affect drug metabolism. We found that 21.2\% of the population are mutation carriers of autosomal recessive diseases, 3.1\% have mutations in cancer-predisposing genes, and 87.3\% carry variants that affect drug response. We highlight how TWB data provide insight into both population history and disease burden, while showing how widespread genetic testing can be used to improve clinical care.</p>},
	issn = {2056-7944},
	doi = {10.1038/s41525-021-00178-9},
	author = {Wei, Chun-Yu and Yang, Jenn-Hwai and Yeh, Erh-Chan and Tsai, Ming-Fang and Kao, Hsiao-Jung and Lo, Chen-Zen and Chang, Lung-Pao and Lin, Wan-Jia and Hsieh, Feng-Jen and Belsare, Saurabh and Bhaskar, Anand and Su, Ming-Wei and Lee, Te-Chang and Lin, Yi-Ling and Liu, Fu-Tong and Shen, Chen-Yang and Li, Ling-Hui and Chen, Chien-Hsiun and Wall, Jeffrey D and Wu, Jer-Yuarn and Kwok, Pui-Yan}
}
@article {173,
	title = {COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.},
	journal = {Nat Genet},
	volume = {47},
	year = {2015},
	month = {2015 Jun},
	pages = {654-60},
	abstract = {<p>Unbiased genetic studies have uncovered surprising molecular mechanisms in human cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted sequencing in five families with an apparent mendelian syndrome of autoimmunity characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease. We identified four unique deleterious variants in the COPA gene (encoding coatomer subunit α) affecting the same functional domain. Hypothesizing that mutant COPA leads to defective intracellular transport via coat protein complex I (COPI), we show that COPA variants impair binding to proteins targeted for retrograde Golgi-to-ER transport. Additionally, expression of mutant COPA results in ER stress and the upregulation of cytokines priming for a T helper type 17 (TH17) response. Patient-derived CD4(+) T cells also demonstrate significant skewing toward a TH17 phenotype that is implicated in autoimmunity. Our findings uncover an unexpected molecular link between a vesicular transport protein and a syndrome of autoimmunity manifested by lung and joint disease. </p>},
	keywords = {Amino Acid Sequence, Arthritis, Autoimmune Diseases, Child, Preschool, Coatomer Protein, Endoplasmic Reticulum, Endoplasmic Reticulum Stress, Female, Genetic Association Studies, Genetic Predisposition to Disease, Golgi Apparatus, HEK293 Cells, Humans, Infant, Lod Score, Lung Diseases, Interstitial, Male, Molecular Sequence Data, Pedigree, Protein Transport},
	issn = {1546-1718},
	doi = {10.1038/ng.3279},
	author = {Watkin, Levi B and Jessen, Birthe and Wiszniewski, Wojciech and Vece, Timothy J and Jan, Max and Sha, Youbao and Thamsen, Maike and Santos-Cortez, Regie L P and Lee, Kwanghyuk and Gambin, Tomasz and Forbes, Lisa R and Law, Christopher S and Stray-Pedersen, Asbj{\o}rg and Cheng, Mickie H and Mace, Emily M and Anderson, Mark S and Liu, Dongfang and Tang, Ling Fung and Nicholas, Sarah K and Nahmod, Karen and Makedonas, George and Canter, Debra L and Kwok, Pui-Yan and Hicks, John and Jones, Kirk D and Penney, Samantha and Jhangiani, Shalini N and Rosenblum, Michael D and Dell, Sharon D and Waterfield, Michael R and Papa, Feroz R and Muzny, Donna M and Zaitlen, Noah and Leal, Suzanne M and Gonzaga-Jauregui, Claudia and Boerwinkle, Eric and Eissa, N Tony and Gibbs, Richard A and Lupski, James R and Orange, Jordan S and Shum, Anthony K}
}
