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Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.
Wei CY, Yang JH, Yeh EC, Tsai MF, Kao HJ, Lo CZ, Chang LP, Lin WJ, Hsieh FJ, Belsare S, Bhaskar A, Su MW, Lee TC, Lin YL, Liu FT, Shen CY, Li LH, Chen CH, Wall JD, Wu JY, Kwok PY. Wei CY, et al. Among authors: kwok py. NPJ Genom Med. 2021 Feb 11;6(1):10. doi: 10.1038/s41525-021-00178-9. NPJ Genom Med. 2021. PMID: 33574314 Free PMC article.
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Ge X, et al. Among authors: kwok py. NPJ Genom Med. 2016;1:16036-. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 5. NPJ Genom Med. 2016. PMID: 28868155 Free PMC article.
Evaluating the quality of the 1000 genomes project data.
Belsare S, Levy-Sakin M, Mostovoy Y, Durinck S, Chaudhuri S, Xiao M, Peterson AS, Kwok PY, Seshagiri S, Wall JD. Belsare S, et al. Among authors: kwok py. BMC Genomics. 2019 Aug 16;20(1):620. doi: 10.1186/s12864-019-5957-x. BMC Genomics. 2019. PMID: 31416423 Free PMC article.
Towards a reference genome that captures global genetic diversity.
Wong KHY, Ma W, Wei CY, Yeh EC, Lin WJ, Wang EHF, Su JP, Hsieh FJ, Kao HJ, Chen HH, Chow SK, Young E, Chu C, Poon A, Yang CF, Lin DS, Hu YF, Wu JY, Lee NC, Hwu WL, Boffelli D, Martin D, Xiao M, Kwok PY. Wong KHY, et al. Among authors: kwok py. Nat Commun. 2020 Oct 30;11(1):5482. doi: 10.1038/s41467-020-19311-w. Nat Commun. 2020. PMID: 33127893 Free PMC article.
Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: kwok py. NPJ Genom Med. 2021 Sep 23;6(1):77. doi: 10.1038/s41525-021-00241-5. NPJ Genom Med. 2021. PMID: 34556655 Free PMC article.
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: kwok py. NPJ Genom Med. 2021 Oct 12;6(1):88. doi: 10.1038/s41525-021-00251-3. NPJ Genom Med. 2021. PMID: 34642307 Free PMC article. No abstract available.
299 results