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Analysis of protein-coding genetic variation in 60,706 humans.

Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285-91. doi:10.1038/nature19057

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.

Vilhjálmsson BJ, Yang J, Finucane HK, et al. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet. 2015;97(4):576-92. doi:10.1016/j.ajhg.2015.09.001

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

Nomura A, Tada H, Teramoto R, et al. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. J Cardiol. 2016;67(2):133-9. doi:10.1016/j.jjcc.2015.09.003

Aptamer-Based Proteomic Profiling Reveals Novel Candidate Biomarkers and Pathways in Cardiovascular Disease.

Ngo D, Sinha S, Shen D, et al. Aptamer-Based Proteomic Profiling Reveals Novel Candidate Biomarkers and Pathways in Cardiovascular Disease. Circulation. 2016;134(4):270-85. doi:10.1161/CIRCULATIONAHA.116.021803

High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, et al. High-throughput discovery of novel developmental phenotypes. Nature. 2016;537(7621):508-514. doi:10.1038/nature19356

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis.

Zheng J, Erzurumluoglu M, Elsworth BL, et al. LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics. 2017;33(2):272-279. doi:10.1093/bioinformatics/btw613

Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci.

Rioux JD, Silverberg MS, Daly MJ, et al. Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet. 2000;66(6):1863-70. doi:10.1086/302913

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

Superti-Furga A, Hästbacka J, Rossi A, et al. A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. Ann N Y Acad Sci. 1996;785:195-201.

Genetic identification of Mcs-1, a rat mammary carcinoma suppressor gene.

Hsu LC, Kennan WS, Shepel LA, et al. Genetic identification of Mcs-1, a rat mammary carcinoma suppressor gene. Cancer Res. 1994;54(10):2765-70.

Mendelian factors underlying quantitative traits in tomato: comparison across species, generations, and environments.

Paterson AH, Damon S, Hewitt JD, et al. Mendelian factors underlying quantitative traits in tomato: comparison across species, generations, and environments. Genetics. 1991;127(1):181-97.