Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet. 2001;17(9):502-10.
Sabeti PC, Reich DE, Higgins JM, et al. Detecting recent positive selection in the human genome from haplotype structure. Nature. 2002;419(6909):832-7. doi:10.1038/nature01140
Gazal S, Loh PR, Finucane HK, et al. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet. 2018;50(11):1600-1607. doi:10.1038/s41588-018-0231-8
Kamitaki N, Usher CL, McCarroll SA. Using Droplet Digital PCR to Analyze Allele-Specific RNA Expression. Methods Mol Biol. 2018;1768:401-422. doi:10.1007/978-1-4939-7778-9_23
Zhang S, Samocha KE, Rivas MA, et al. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018;28(7):968-974. doi:10.1101/gr.231902.117
Early AM, Lievens M, MacInnis BL, et al. Host-mediated selection impacts the diversity of Plasmodium falciparum antigens within infections. Nat Commun. 2018;9(1):1381. doi:10.1038/s41467-018-03807-7
Márquez-Luna C, Loh PR, South Asian Type 2 Diabetes (SAT2D) Consortium, Consortium STD 2, Price AL. Multiethnic polygenic risk scores improve risk prediction in diverse populations. Genet Epidemiol. 2017;41(8):811-823. doi:10.1002/gepi.22083
Latva-Rasku A, Honka MJ, Stančáková A, et al. A Partial Loss-of-Function Variant in Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study. Diabetes. 2018;67(2):334-342. doi:10.2337/db17-1142
Hui KY, Fernandez-Hernandez H, Hu J, et al. Functional variants in the gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease. Sci Transl Med. 2018;10(423). doi:10.1126/scitranslmed.aai7795
Stern JL, Paucek RD, Huang FW, et al. Allele-Specific DNA Methylation and Its Interplay with Repressive Histone Marks at Promoter-Mutant TERT Genes. Cell Rep. 2017;21(13):3700-3707. doi:10.1016/j.celrep.2017.12.001