Tello-Ruiz MK, Curley C, DelMonte T, et al. Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19. Eur J Hum Genet. 2006;14(6):780-90. doi:10.1038/sj.ejhg.5201612.

Williams AL, Patterson N, Glessner J, Hakonarson H, Reich D. Phasing of many thousands of genotyped samples. Am J Hum Genet. 2012;91(2):238-51. doi:10.1016/j.ajhg.2012.06.013.

Kim K, Bang S-Y, Lee H-S, et al. The HLA-DRβ1 amino acid positions 11-13-26 explain the majority of SLE-MHC associations. Nat Commun. 2014;5:5902. doi:10.1038/ncomms6902.

Li Y, Beckman KB, Caberto C, et al. Association of Genes, Pathways, and Haplogroups of the Mitochondrial Genome with the Risk of Colorectal Cancer: The Multiethnic Cohort. PLoS One. 2015;10(9):e0136796. doi:10.1371/journal.pone.0136796.

Hästbacka J, Kerrebrock A, Mokkala K, et al. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet. 1999;7(6):664-70. doi:10.1038/sj.ejhg.5200361.

Korn JM, Kuruvilla FG, McCarroll SA, et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet. 2008;40(10):1253-60. doi:10.1038/ng.237.

Walsh EC, Sabeti P, Hutcheson HB, et al. Searching for signals of evolutionary selection in 168 genes related to immune function. Hum Genet. 2006;119(1-2):92-102. doi:10.1007/s00439-005-0090-0.

Kirby A, Gnirke A, Jaffe DB, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45(3):299-303. doi:10.1038/ng.2543.

Handsaker RE, Van Doren V, Berman JR, et al. Large multiallelic copy number variations in humans. Nat Genet. 2015;47(3):296-303. doi:10.1038/ng.3200.

Palamara PF, Francioli LC, Wilton PR, et al. Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates. Am J Hum Genet. 2015;97(6):775-89. doi:10.1016/j.ajhg.2015.10.006.