References
Stenson PD, Mort M, Ball EV, Howells K, et al: 'The Human Gene Mutation Database: 2008 update'. Genome Med. 2009, 1: 13-10.1186/gm13.
Krawczak M, Thomas NS, Hundrieser B, Mort M, et al: 'Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing'. Hum Mutat. 2007, 28: 150-158. 10.1002/humu.20400.
Královicová J, Lei H, Vorechovský I: 'Phenotypic consequences of branch point substitutions'. Hum Mutat. 2006, 27: 803-813. 10.1002/humu.20362.
Wang X, Wang K, Radovich M, Wang Y, et al: 'Genome-wide prediction of cis-acting RNA elements regulating tissue-specific pre-mRNA alternative splicing'. BMC Genomics. 2009, 10 (Suppl 1): S4-10.1186/1471-2164-10-S1-S4.
Tress ML, Martelli PL, Frankish A, Reeves GA, et al: 'The implications of alternative splicing in the ENCODE protein complement'. Proc Natl Acad Sci USA. 2007, 104: 5495-5500. 10.1073/pnas.0700800104.
Gingeras TR: 'Implications of chimaeric non-co-linear transcripts'. Nature. 2009, 461: 206-211. 10.1038/nature08452.
Solis AS, Shariat N, Patton JG: 'Splicing fidelity, enhancers, and disease'. Front Biosci. 2008, 13: 1926-1942. 10.2741/2812.
Wilkins JM, Southam L, Mustafa Z, Chapman K, et al: 'Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis'. BMC Med Genet. 2009, 10: 141-10.1186/1471-2350-10-141.
Manolio TA, Collins FS, Cox NJ, Goldstein DB, et al: 'Finding the missing heritability of complex diseases'. Nature. 2009, 461: 747-753. 10.1038/nature08494.
McCauley JL, Kenealy SJ, Margulies EH, Schnetz-Boutaud N, et al: 'SNPs in multi-species conserved Sequences (MCS) as useful markers in association studies: A practical approach'. BMC Genomics. 2007, 8: 266-10.1186/1471-2164-8-266.
Kwan T, Benovoy D, Dias C, Gurd S, et al: 'Genome-wide analysis of transcript isoform variation in humans'. Nat Genet. 2008, 40: 225-231. 10.1038/ng.2007.57.
Coulombe-Huntington J, Lam KC, Dias C, Majewski J: 'Fine-scale variation and genetic determinants of alternative splicing across individuals'. PLoS Genet. 2009, 5: e1000766-10.1371/journal.pgen.1000766.
Millar DS, Horan M, Chuzhanova NA, Cooper DN: 'Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene'. Hum Genomics. 2010, 4: 289-301.
Hull J, Campino S, Rowlands K, Chan M-S, et al: 'Identification of common genetic variation that modulates alternative splicing'. PLoS Genet. 2007, 3: e99-10.1371/journal.pgen.0030099.
Nembarware V, Lupindo B, Schouest K, Spillane C, et al: 'Genome-wide survey of allele-specific splicing in humans'. BMC Genomics. 2008, 9: 265-10.1186/1471-2164-9-265.
Lomelin D, Jorgenson E, Risch N: 'Human genetic variation recognizes functional elements in noncoding sequence'. Genome Res. 2010, 20: 311-319. 10.1101/gr.094151.109.
Enattah NS, Sahi T, Savilahti E, Terwilliger JD, et al: 'Identification of a variant associated with adult-type hypolactasia'. Nat Genet. 2002, 30: 233-237. 10.1038/ng826.
Olds LC, Sibley E: 'Lactase persistence DNA variant enhances lactase promoter activity in vitro: Functional role as a cis regulatory element'. Hum Mol Genet. 2003, 12: 2333-2340. 10.1093/hmg/ddg244.
Lewinsky RH, Jensen TG, Møller J, Stensballe A, et al: 'T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro'. Hum Mol Genet. 2005, 14: 3945-3953. 10.1093/hmg/ddi418.
Ragvin A, Moro E, Fredman D, Navratilova P, et al: 'Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3'. Proc Natl Acad Sci USA. 2010, 107: 775-780. 10.1073/pnas.0911591107.
Jowett JB, Curran JE, Johnson MP, Carless MA, et al: 'Genetic variation at the FTO locus influences RBL2 gene expression'. Diabetes. 2010, 59: 726-732. 10.2337/db09-1277.
Dostie J, Dekker J: 'Mapping networks of physical interactions between genomic elements using 5C technology'. Nat Protoc. 2007, 2: 988-1002. 10.1038/nprot.2007.116.
Visel A, Blow MJ, Li Z, Zhang T, et al: 'ChIP-seq accurately predicts tissue-specific activity of enhancers'. Nature. 2009, 457: 854-858. 10.1038/nature07730.