Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, Matsuda K, Ikegawa S, Takahashi A, Kanai M et al (2019) Characterizing rare and low-frequency height-associated variants in the Japanese population. Nat Commun 10:4393
Article CAS PubMed PubMed Central Google Scholar
Aryee MJ, Jaffe AE, Corrada-Bravo H, Ladd-Acosta C, Feinberg AP, Hansen KD, Irizarry RA (2014) Minfi: a flexible and comprehensive bioconductor package for the analysis of Infinium DNA methylation microarrays. Bioinformatics 30:1363–1369
Article CAS PubMed PubMed Central Google Scholar
Asenius F, Gorrie-Stone TJ, Brew A, Panchbhaya Y, Williamson E, Schalkwyk LC, Rakyan VK, Holland ML, Marzi SJ, Williams DJ (2020) The DNA methylome of human sperm is distinct from blood with little evidence for tissue-consistent obesity associations. PLoS Genet 16:e1009035
Article CAS PubMed PubMed Central Google Scholar
Baron J, Savendahl L, De Luca F, Dauber A, Phillip M, Wit JM, Nilsson O (2015) Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol 11:735–746
Article CAS PubMed PubMed Central Google Scholar
Beck MW (2018) NeuralNetTools: visualization and analysis tools for neural networks. J Stat Softw 85:1–20
Article PubMed PubMed Central Google Scholar
Beyter D, Ingimundardottir H, Oddsson A, Eggertsson HP, Bjornsson E, Jonsson H, Atlason BA, Kristmundsdottir S, Mehringer S, Hardarson MT et al (2021) Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. Nat Genet 53:779–786
Article CAS PubMed Google Scholar
Bobick BE, Kulyk WM (2008) Regulation of cartilage formation and maturation by mitogen-activated protein kinase signaling. Birth Defects Res C Embryo Today 84:131–154
Article CAS PubMed Google Scholar
Bonilla C, Bertoni B, Min JL, Hemani G, Elliott HR (2021) Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer. Pigment Cell Melanoma Res 34:892–904
Article CAS PubMed Google Scholar
Braun PR, Han S, Hing B, Nagahama Y, Gaul LN, Heinzman JT, Grossbach AJ, Close L, Dlouhy BJ, Howard MR et al (2019) Genome-wide DNA methylation comparison between live human brain and peripheral tissues within individuals. Transl Psychiatr 9:47
Da SME, Peixoto LN, Baptista MA, Goncalves H, Wehrmeister FC, Formoso AM, Lessa HB (2019) Maternal smoking during pregnancy and offspring body composition in adulthood: results from two birth cohort studies. BMJ Open 9:e23852
Derakhshan M, Kessler NJ, Ishida M, Demetriou C, Brucato N, Moore GE, Fall C, Chandak GR, Ricaut FX, Prentice AM et al (2022) Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo. Nucleic Acids Res 50:6735–6752
Article CAS PubMed PubMed Central Google Scholar
Duan P, Bonewald LF (2016) The role of the wnt/beta-catenin signaling pathway in formation and maintenance of bone and teeth. Int J Biochem Cell Biol 77:23–29
Article CAS PubMed PubMed Central Google Scholar
Elliott HR, Burrows K, Min JL, Tillin T, Mason D, Wright J, Santorelli G, Davey SG, Lawlor DA, Hughes AD et al (2022) Characterisation of ethnic differences in DNA methylation between UK-resident South Asians and Europeans. Clin Epigenet 14:130
Fortin JP, Triche TJ, Hansen KD (2017) Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array with minfi. Bioinformatics 33:558–560
Article CAS PubMed Google Scholar
Garson GD (1991) Interpreting neural-network connection weights. AI Expert 6(4):46–51
Glorot X, Bengio Y (2010) Understanding the difficulty of training deep feedforward neural networks. In: Proceedings of the 13th international conference on artificial intelligence and statistics, pp 249–256
Goodall R, Lee AA (2020) Predicting materials properties without crystal structure: deep representation learning from stoichiometry. Nat Commun 11:6280
Article CAS PubMed PubMed Central Google Scholar
Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V, Rand K, Feitosa MF et al (2021) Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Am J Hum Genet 108:564–582
Article CAS PubMed PubMed Central Google Scholar
Gunasekara CJ, Scott CA, Laritsky E, Baker MS, MacKay H, Duryea JD, Kessler NJ, Hellenthal G, Wood AC, Hodges KR et al (2019) A genomic atlas of systemic interindividual epigenetic variation in humans. Genome Biol 20:105
Article PubMed PubMed Central Google Scholar
Gunasekara CJ, MacKay H, Scott CA, Li S, Laritsky E, Baker MS, Grimm SL, Jun G, Li Y, Chen R et al (2023) Systemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control. Genome Biol 24:2
Article CAS PubMed PubMed Central Google Scholar
Guo S, Diep D, Plongthongkum N, Fung HL, Zhang K, Zhang K (2017) Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA. Nat Genet 49:635–642
Article CAS PubMed PubMed Central Google Scholar
Harris RA, Nagy-Szakal D, Kellermayer R (2013) Human metastable epiallele candidates link to common disorders. Epigenetics 8:157–163
Article CAS PubMed PubMed Central Google Scholar
Hatch H, Secombe J (2022) Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes–Jensen syndrome. FEBS J 289:7776–7787
Article CAS PubMed Google Scholar
He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H, Yang X, Dai J et al (2015) Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. Hum Mol Genet 24:1791–1800
Article CAS PubMed Google Scholar
Hofbauer LC, Bozec A, Rauner M, Jakob F, Perner S, Pantel K (2021) Novel approaches to target the microenvironment of bone metastasis. Nat Rev Clin Oncol 18:488–505
Howe LD, Matijasevich A, Tilling K, Brion MJ, Leary SD, Smith GD, Lawlor DA (2012) Maternal smoking during pregnancy and offspring trajectories of height and adiposity: comparing maternal and paternal associations. Int J Epidemiol 41:722–732
Article PubMed PubMed Central Google Scholar
Hutchison MR, White PC (2015) Prostacyclin regulates bone growth via the Epac/Rap1 pathway. Endocrinology 156:499–510
Islam SA, Goodman SJ, MacIsaac JL, Obradovic J, Barr RG, Boyce WT, Kobor MS (2019) Integration of DNA methylation patterns and genetic variation in human pediatric tissues help inform EWAS design and interpretation. Epigenet Chromatin 12:1
Jurkowska RZ, Jurkowski TP, Jeltsch A (2011) Structure and function of mammalian DNA methyltransferases. ChemBioChem 12:206–222
Article CAS PubMed Google Scholar
Kandaswamy R, Hannon E, Arseneault L, Mansell G, Sugden K, Williams B, Burrage J, Staley JR, Pishva E, Dahir A et al (2021) DNA methylation signatures of adolescent victimization: analysis of a longitudinal monozygotic twin sample. Epigenetics 16:1169–1186
Kegelman CD, Collins JM, Nijsure MP, Eastburn EA, Boerckel JD (2020) Gone caving: roles of the transcriptional regulators YAP and TAZ in skeletal development. Curr Osteoporos Rep 18:526–540
Article PubMed PubMed Central Google Scholar
Kessler NJ, Waterland RA, Prentice AM, Silver MJ (2018) Establishment of environmentally sensitive DNA methylation states in the very early human embryo. Sci Adv 4:t2624
Krzyzewska IM, Maas SM, Henneman P, Lip K, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T et al (2019) A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenet 11:156
Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, Heravi-Moussavi A, Kheradpour P, Zhang Z, Wang J, Ziller MJ et al (2015) Integrative analysis of 111 reference human epigenomes. Nature 518:317–330
Article CAS PubMed PubMed Central Google Scholar
Lello L, Avery SG, Tellier L, Vazquez AI, de Los CG, Hsu S (2018) Accurate genomic prediction of human height. Genetics 210:477–497
Article PubMed PubMed Central Google Scholar
Llobet MO, Johansson A, Gyllensten U, Allen M, Enroth S (2023) Forensic prediction of sex, age, height, body mass index, hip-to-waist ratio, smoking status and lipid lowering drugs using epigenetic markers and plasma proteins. Forensic Sci Int Genet 65:102871
Article CAS PubMed Google Scholar
Lloyd-Jones LR, Zeng J, Sidorenko J, Yengo L, Moser G, Kemper KE, Wang H, Zheng Z, Magi R, Esko T et al (2019) Improved polygenic prediction by Bayesian multiple regression on summary statistics. Nat Commun 10:5086
留言 (0)