Nelson MR, Wegmann D, Ehm MG, Kessner D, Jean PS, Verzilli C, et al: An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science. 2012, 337 (6090): 100-104. 10.1126/science.1217876.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hartl D, Clark A: Principles of Population Genetics. Sunderland, Sinauer Associates 1998
Gibson G: Rare and common variants: twenty arguments. Nat Rev Genet. 2011, 13 (2): 135-145. 10.1038/nrg3118.
Article
Google Scholar
Kryukov GV, Pennacchio LA, Sunyaev SR: Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet. 2007, 80 (4): 727-739. 10.1086/513473.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zhu Q, Ge D, Maia JM, Zhu M, Petrovski S, Dickson SP, et al: A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am J Hum Genet. 2011, 88 (4): 458-468. 10.1016/j.ajhg.2011.03.008.
Article
CAS
PubMed
PubMed Central
Google Scholar
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, et al: An integrated map of genetic variation from 1,092 human genomes. Nature. 2012, 491 (7422): 56-65. 10.1038/nature11632.
Article
PubMed
Google Scholar
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al: Finding the missing heritability of complex diseases. Nature. 2009, 461 (7265): 747-753. 10.1038/nature08494.
Article
CAS
PubMed
PubMed Central
Google Scholar
Visscher PM, Brown MA, McCarthy MI, Yang J: Five years of GWAS discovery. Am J Hum Genet. 2012, 90 (1): 7-24. 10.1016/j.ajhg.2011.11.029.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yang J, Manolio TA, Pasquale LR, Boerwinkle E, Caporaso N, Cunningham JM, et al: Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet. 2011, 43 (6): 519-525. 10.1038/ng.823.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, et al: Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature. 2014, 505 (7484): 550-554. 10.1038/nature12825.
Article
CAS
PubMed
Google Scholar
Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, et al: Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014, 94 (2): 223-232. 10.1016/j.ajhg.2014.01.009.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, et al: Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011, 43 (11): 1066-1073. 10.1038/ng.952.
Article
CAS
PubMed
PubMed Central
Google Scholar
Gudmundsson J, Sulem P, Gudbjartsson DF, Masson G, Agnarsson BA, Benediktsdottir KR, et al: A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet. 2012, 44 (12): 1326-1329. 10.1038/ng.2437.
Article
CAS
PubMed
PubMed Central
Google Scholar
Bansal V, Libiger O, Torkamani A, Schork NJ: Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet. 2010, 11 (11): 773-785. 10.1038/nrg2867.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cirulli ET, Goldstein DB: Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010, 11 (6): 415-425. 10.1038/nrg2779.
Article
CAS
PubMed
Google Scholar
Schork NJ, Murray SS, Frazer KA, Topol EJ: Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev. 2009, 19 (3): 212-219. 10.1016/j.gde.2009.04.010.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hatzikotoulas K, Gilly A, Zeggini E: Using population isolates in genetic association studies. Brief Funct Genomics. 2014, 13 (5): 371-377. 10.1093/bfgp/elu022.
Article
PubMed
PubMed Central
Google Scholar
Wang SR, Agarwala V, Flannick J, Chiang CWK, Altshuler D, Hirschhorn JN, et al: Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am J Hum Genet. 2014, 94 (5): 710-720. 10.1016/j.ajhg.2014.03.019.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH: Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005, 37 (2): 161-165. 10.1038/ng1509.
Article
CAS
PubMed
Google Scholar
Cohen JC, Pertsemlidis A, Fahmi S, Esmail S, Vega GL, Grundy SM, et al: Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A. 2006, 103 (6): 1810-1815. 10.1073/pnas.0508483103.
Article
CAS
PubMed
PubMed Central
Google Scholar
Fu W, O’Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, et al: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 2013, 493 (7431): 216-220. 10.1038/nature11690.
Article
CAS
PubMed
Google Scholar
Lee S, Abecasis GR, Boehnke M, Lin X: Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet. 2014, 95 (1): 5-23. 10.1016/j.ajhg.2014.06.009.
Article
CAS
PubMed
PubMed Central
Google Scholar
Morgenthaler S, Thilly WG: A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res. 2007, 615 (1–2): 28-56. 10.1016/j.mrfmmm.2006.09.003.
Article
CAS
PubMed
Google Scholar
Asimit JL, Day-Williams AG, Morris AP, Zeggini E: ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data. Hum Hered. 2012, 73 (2): 84-94. 10.1159/000336982.
Article
CAS
PubMed
PubMed Central
Google Scholar
Li B, Leal SM: Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet. 2008, 83 (3): 311-321. 10.1016/j.ajhg.2008.06.024.
Article
CAS
PubMed
PubMed Central
Google Scholar
Morris AP, Zeggini E: An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol. 2010, 34 (2): 188-193. 10.1002/gepi.20450.
Article
PubMed
Google Scholar
Madsen BE, Browning SR: A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet. 2009, 5 (2): e1000384-10.1371/journal.pgen.1000384.
Article
PubMed
PubMed Central
Google Scholar
Han F, Pan W: A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered. 2010, 70 (1): 42-54. 10.1159/000288704.
Article
PubMed
PubMed Central
Google Scholar
Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X: Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 2011, 89 (1): 82-93. 10.1016/j.ajhg.2011.05.029.
Article
CAS
PubMed
PubMed Central
Google Scholar
Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, et al: Testing for an unusual distribution of rare variants. PLoS Genet. 2011, 7 (3): e1001322-10.1371/journal.pgen.1001322.
Article
CAS
PubMed
PubMed Central
Google Scholar
Pan W: Asymptotic tests of association with multiple SNPs in linkage disequilibrium. Genet Epidemiol. 2009, 33 (6): 497-507. 10.1002/gepi.20402.
Article
PubMed
PubMed Central
Google Scholar
Lee S, Wu MC, Lin X: Optimal tests for rare variant effects in sequencing association studies. Biostatistics. 2012, 13 (4): 762-775. 10.1093/biostatistics/kxs014.
Article
PubMed
PubMed Central
Google Scholar
Derkach A, Lawless JF, Sun L: Robust and powerful tests for rare variants using Fisher’s method to combine evidence of association from two or more complementary tests. Genet Epidemiol. 2013, 37 (1): 110-121. 10.1002/gepi.21689.
Article
PubMed
Google Scholar
Sun J, Zheng Y, Hsu L: A unified mixed-effects model for rare-variant association in sequencing studies. Genet Epidemiol. 2013, 37 (4): 334-344. 10.1002/gepi.21717.
Article
PubMed
PubMed Central
Google Scholar
Chen LS, Hsu L, Gamazon ER, Cox NJ, Nicolae DL: An exponential combination procedure for set-based association tests in sequencing studies. Am J Hum Genet. 2012, 91 (6): 977-986. 10.1016/j.ajhg.2012.09.017.
Article
CAS
PubMed
PubMed Central
Google Scholar
Derkach A, Lawless JF, Sun L: Pooled association tests for rare genetic variants: a review and some new results. Stat Sci. 2014, 29 (2): 302-321. 10.1214/13-STS456.
Article
Google Scholar
Hubisz MJ, Pollard KS, Siepel A: PHAST and RPHAST: phylogenetic analysis with space/time models. Brief Bioinform. 2011, 12 (1): 41-51. 10.1093/bib/bbq072.
Article
CAS
PubMed
Google Scholar
Cooper GM, Stone EA: Asimenos G; NISC Comparative Sequencing Program, Green ED, Batzoglou S, Sidow A: Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005, 15 (7): 901-913. 10.1101/gr.3577405.
Article
CAS
PubMed
PubMed Central
Google Scholar
Gonzalez-Perez A, Lopez-Bigas N: Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score. Condel Am J Hum Genet. 2011, 88 (4): 440-449. 10.1016/j.ajhg.2011.03.004.
Article
CAS
PubMed
Google Scholar
Kumar P, Henikoff S, Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009, 4 (7): 1073-1082. 10.1038/nprot.2009.86.
Article
CAS
PubMed
Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al: A method and server for predicting damaging missense mutations. Nat Methods. 2010, 7 (4): 248-249. 10.1038/nmeth0410-248.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J: A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014, 46 (3): 310-315. 10.1038/ng.2892.
Article
CAS
PubMed
PubMed Central
Google Scholar
Castellana S, Mazza T: Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools. Brief Bioinform. 2013, 14 (4): 448-459. 10.1093/bib/bbt013.
Article
CAS
PubMed
Google Scholar
Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, et al: Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet. 2012, 91 (6): 1022-1032. 10.1016/j.ajhg.2012.10.015.
Article
CAS
PubMed
PubMed Central
Google Scholar
Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, et al: Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet. 2010, 86 (6): 832-838. 10.1016/j.ajhg.2010.04.005.
Article
PubMed
PubMed Central
Google Scholar
Ladouceur M, Dastani Z, Aulchenko YS, Greenwood CM, Richards JB: The empirical power of rare variant association methods: results from sanger sequencing in 1,998 individuals. PLoS Genet. 2012, 8 (2): 10.1371/journal.pgen.1002496. Article ID e1002496
Google Scholar
Moutsianas L, Agarwala V, Fuchsberger C, Flannick J, Rivas MA, Gaulton KJ, et al: The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet. 2015, 11 (4): 10.1371/journal.pgen.1005165. Article ID e1005165
Google Scholar
Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD: Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. PLoS Genet. 2014, 10 (12): 10.1371/journal.pgen.1004729. Article ID e1004729
Google Scholar
Chen H, Hendricks AE, Cheng Y, Cupples AL, Dupuis J, Liu CT: Comparison of statistical approaches to rare variant analysis for quantitative traits. BMC Proc 2011, 5 Suppl 9: S113.
Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X: Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet. 2013, 92 (6): 841-853. 10.1016/j.ajhg.2013.04.015.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zhi D, Chen R: Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing. PLoS One. 2012, 7 (2): e31358-10.1371/journal.pone.0031358.
Article
CAS
PubMed
PubMed Central
Google Scholar
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, et al: A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014, 46 (9): 944-950. 10.1038/ng.3050.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wijsman EM: The role of large pedigrees in an era of high-throughput sequencing. Hum Genet. 2012, 131 (10): 1555-1563. 10.1007/s00439-012-1190-2.
Article
PubMed
PubMed Central
Google Scholar
Epstein MP, Duncan R, Ware EB, Jhun MA, Bielak LF, Zhao W, et al: A statistical approach for rare-variant association testing in affected sibships. Am J Hum Genet. 2015, 96 (4): 543-554. 10.1016/j.ajhg.2015.01.020.
Article
CAS
PubMed
PubMed Central
Google Scholar
He Z, O’Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RLP, et al: Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet. 2014, 94 (1): 33-46. 10.1016/j.ajhg.2013.11.021.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chen H, Meigs JB, Dupuis J: Sequence kernel association test for quantitative traits in family samples. Genet Epidemiol. 2013, 37 (2): 196-204. 10.1002/gepi.21703.
Article
PubMed
Google Scholar
Wang L, Choi S, Lee S, Park T, Won S: Comparing family-based rare variant association tests for dichotomous phenotypes. BMC Proc. 2015, 9 (Suppl 8): S21-
Google Scholar
Abney M: Permutation testing in the presence of polygenic variation. Genet Epidemiol. 2015, 39 (4): 249-258. 10.1002/gepi.21893.
Article
PubMed
PubMed Central
Google Scholar
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010, 42 (9): 790-793. 10.1038/ng.646.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al: Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010, 42 (1): 30-35. 10.1038/ng.499.
Article
CAS
PubMed
Google Scholar
Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, et al: De novo mutations in epileptic encephalopathies. Nature. 2013, 501 (7466): 217-221. 10.1038/nature12439.
Article
CAS
PubMed
Google Scholar
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O’Roak BJ, Gilissen C, et al: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012, 44 (4): 440-444.
Article
PubMed
PubMed Central
Google Scholar
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, et al: De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013, 498 (7453): 220-223. 10.1038/nature12141.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ramu A, Noordam MJ, Schwartz RS, Wuster A, Hurles ME, Cartwright RA, et al: DeNovoGear: de novo indel and point mutation discovery and phasing. Nat Methods. 2013, 10 (10): 985-987. 10.1038/nmeth.2611.
Article
CAS
PubMed
PubMed Central
Google Scholar
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, et al: Whole-genome sequence-based analysis of thyroid function. Nat Commun. 2015, 6: 5681-10.1038/ncomms6681.
Article
CAS
PubMed
PubMed Central
Google Scholar
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, et al: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nat Commun. 2014, 5: 4871-10.1038/ncomms5871.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zhu H, Wang Z, Wang X, Sha Q: A novel statistical method for rare variant association studies in general pedigrees. BMC Proc 2015, 9 Suppl 8: S23.
Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M, et al: Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet. 2014, 51 (8): 537-544. 10.1136/jmedgenet-2014-102405.
Article
CAS
PubMed
PubMed Central
Google Scholar
Barnett IJ, Lee S, Lin X: Detecting rare variant effects using extreme phenotype sampling in sequencing association studies. Genet Epidemiol. 2013, 37 (2): 142-151. 10.1002/gepi.21699.
Article
PubMed
Google Scholar
Lin DY, Zeng D, Tang ZZ: Quantitative trait analysis in sequencing studies under trait-dependent sampling. Proc Natl Acad Sci U S A. 2013, 110 (30): 12247-12252. 10.1073/pnas.1221713110.
Article
CAS
PubMed
PubMed Central
Google Scholar
Derkach A, Chiang T, Gong J, Addis L, Dobbins S, Tomlinson I, et al: Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic. Bioinformatics. 2014, 30 (15): 2179-2188. 10.1093/bioinformatics/btu196.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA, et al: Optimal unified approach for rare-variant association testing with application to small-sample case–control whole-exome sequencing studies. Am J Hum Genet. 2012, 91 (2): 224-237. 10.1016/j.ajhg.2012.06.007.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hedges LV, Olkin I: Statistical Method for Meta-Analysis. 1985, Academic Press Inc, Orlando, 1
Google Scholar
Lee S, Teslovich TM, Boehnke M, Lin X: General framework for meta-analysis of rare variants in sequencing association studies. Am J Hum Genet. 2013, 93 (1): 42-53. 10.1016/j.ajhg.2013.05.010.
Article
CAS
PubMed
PubMed Central
Google Scholar
Liu DJ, Peloso GM, Zhan X, Holmen OL, Zawistowski M, Feng S, et al: Meta-analysis of gene-level tests for rare variant association. Nat Genet. 2014, 46 (2): 200-204. 10.1038/ng.2852.
Article
CAS
PubMed
Google Scholar
Blangero J, Teslovich TM, Sim X, Almeida MA, Jun G, Dyer TD, et al: Omics-squared: human genomic, transcriptomic and phenotypic data for Genetic Analysis Workshop 19. BMC Proc. 2015, 9 (Suppl 8): S2-
Google Scholar
Green A, Cook K, Grinde K, Valcarcel A, Tintle N: A general method for combining different family-based, rare variant tests of association to improve power and robustness to a wide range of genetic architectures. BMC Proc. 2015, 9 (Suppl 8): S18-
Google Scholar
Jadhav S, Vsevolozhskaya OA, Tong X, Lu Q: The impact of genetic structure on sequencing analysis. BMC Proc. 2015, 9 (Suppl 8): S19-
Google Scholar
Ramsay J, Silverman B: Functional Data Analysis. 2005, Springer, New York, 2
Google Scholar
Schaid DJ, McDonnell SK, Sinnwell JP, Thibodeau SN: Multiple genetic variant association testing by collapsing and kernel methods with pedigree or population structured data. Genet Epidemiol. 2013, 37 (5): 409-418. 10.1002/gepi.21727.
Article
PubMed
Google Scholar
Katsumata Y, Fardo DW: On combining family- and population-based sequencing data. BMC Proc. 2015, 9 (Suppl 8): S20-
Google Scholar
Wang S, Fisher V, Chen Y, Dupuis J: Comparison of multi-SNV association tests in a meta-analysis of GAW19 family and unrelated data. BMC Proc. 2015, 9 (Suppl 8): S22-
Google Scholar
Wang X, Lee S, Zhu X, Redline S, Lin X: GEE-based SNP set association test for continuous and discrete traits in family-based association studies. Genet Epidemiol. 2013, 37 (8): 778-786. 10.1002/gepi.21763.
Article
PubMed
PubMed Central
Google Scholar
Zhu Y, Xiong M: Family-based association studies for next-generation sequencing. Am J Hum Genet. 2012, 90 (6): 1028-1045. 10.1016/j.ajhg.2012.04.022.
Article
CAS
PubMed
PubMed Central
Google Scholar
Choi S, Lee S, Cichon S, Noethen MM, Lange C, Park T, et al: FARVAT: a family-based rare variant association test. Bioinformatics. 2014, 30 (22): 3197-3205. 10.1093/bioinformatics/btu496.
Article
PubMed
Google Scholar
Price AL, Zaitlen NA, Reich D, Patterson N: New approaches to population stratification in genome-wide association studies. Nat Rev Genet. 2010, 11 (7): 459-463. 10.1038/nrg2813.
Article
CAS
PubMed
PubMed Central
Google Scholar
Mathieson I, McVean G: Differential confounding of rare and common variants in spatially structured populations. Nat Genet. 2012, 44 (3): 243-246. 10.1038/ng.1074.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zawistowski M, Reppell M, Wegmann D, St Jean PL, Ehm MG, Nelson MR, et al: Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests. Eur J Hum Genet. 2014, 22 (9): 1137-1144. 10.1038/ejhg.2013.297.
Article
PubMed
PubMed Central
Google Scholar
Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, et al: Identification and analysis of functional elements in 1 % of the human genome by the ENCODE pilot project. Nature. 2007, 447 (7146): 799-816. 10.1038/nature05874.
Article
CAS
PubMed
Google Scholar
Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, Heravi-Moussavi A, et al: Integrative analysis of 111 reference human epigenomes. Nature. 2015, 518 (7539): 317-330. 10.1038/nature14248.
Article
CAS
PubMed
PubMed Central
Google Scholar
Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al: The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014, 515 (7526): 216-221. 10.1038/nature13908.
Article
CAS
PubMed
PubMed Central
Google Scholar