Karjalainen MK, Ojaniemi M, Haapalainen AM, et al. CXCR3 Polymorphism and Expression Associate with Spontaneous Preterm Birth. J Immunol. 2015;195(5):2187-98. doi:10.4049/jimmunol.1501174
Paterson AH, Lander ES, Hewitt JD, Peterson S, Lincoln SE, Tanksley SD. Resolution of quantitative traits into Mendelian factors by using a complete linkage map of restriction fragment length polymorphisms. Nature. 1988;335(6192):721-6. doi:10.1038/335721a0
Altshuler D, Clark AG. Genetics. Harvesting medical information from the human family tree. Science. 2005;307(5712):1052-3. doi:10.1126/science.1109682
Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat. 2013;34(9):1216-20. doi:10.1002/humu.22375
van de Woestijne AP, van der Graaf Y, de Bakker PIW, et al. Rs964184 (APOA5-A4-C3-A1) is related to elevated plasma triglyceride levels, but not to an increased risk for vascular events in patients with clinically manifest vascular disease. PLoS One. 2014;9(6):e101082. doi:10.1371/journal.pone.0101082
Do R, Balick D, Li H, Adzhubei I, Sunyaev S, Reich D. No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans. Nat Genet. 2015;47(2):126-31. doi:10.1038/ng.3186
Lunetta KL, Day FR, Sulem P, et al. Rare coding variants and X-linked loci associated with age at menarche. Nat Commun. 2015;6:7756. doi:10.1038/ncomms8756
Delaneau O, Marchini J, 1000 Genomes Project Consortium, 1000 Genomes Project Consortium. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. Nat Commun. 2014;5:3934. doi:10.1038/ncomms4934
Chang CY, LaBaer J. DNA polymorphism detector: an automated tool that searches for allelic matches in public databases for discrepancies found in clone or cDNA sequences. Bioinformatics. 2005;21(9):2133-5. doi:10.1093/bioinformatics/bti298
Genovese G, Handsaker RE, Li H, Kenny EE, McCarroll SA. Mapping the human reference genome’s missing sequence by three-way admixture in Latino genomes. Am J Hum Genet. 2013;93(3):411-21. doi:10.1016/j.ajhg.2013.07.002