Book contents
- Introduction to Research Methodology for Specialists and Trainees
- Introduction to Research Methodology for Specialists and Trainees
- Copyright page
- Contents
- Contributors
- Preface
- Chapter 1 Research During Specialist Medical Training
- Chapter 2 Time Management When Planning and Conducting Medical Research
- Chapter 3 Computer Skills Required for Medical Research
- Chapter 4 Computer Skills Required for Medical Research: Social Media
- Chapter 5 Finding and Using Information in Your Research
- Chapter 6 Critical Appraisal of the Medical Literature
- Chapter 7 Evidence-based Medicine and Translating Research into Practice
- Chapter 8 Clinical Audit for Quality Improvement
- Chapter 9 A Journey of Exploration
- Chapter 10 Randomised Clinical Trials
- Chapter 11 Animal Research and Alternatives
- Chapter 12 Genetic and Epigenetic Research
- Chapter 13 ‘Omic’ Research
- Chapter 14 Data Management in Medical Research
- Chapter 15 Statistics in Medical Research
- Chapter 16 Epidemiological Research
- Chapter 17 Informing Patients, Consent, Governance and Good Clinical Practice
- Chapter 18 Patient Involvement in Medical Research
- Chapter 19 Research in the National Health Service
- Chapter 20 Supervising Medical Research and Being Supervised
- Chapter 21 Funding Medical Research
- Chapter 22 The Purpose and Practice of Medical Research Meetings
- Chapter 23 How to Present a Medical Research Paper
- Chapter 24 How to Write a Medical Research Paper and Get It Accepted for Publication
- Chapter 25 How to Write a Medical Thesis
- Obstetrics and Gynaecology Supplement
- B Research in Fetal Medicine
- C Research in Maternal Medicine
- D Research in Benign Gynaecology
- E Research in Gynaecological Oncology
- Index
- References
Chapter 12 - Genetic and Epigenetic Research
Published online by Cambridge University Press: 04 August 2017
Book contents
- Introduction to Research Methodology for Specialists and Trainees
- Introduction to Research Methodology for Specialists and Trainees
- Copyright page
- Contents
- Contributors
- Preface
- Chapter 1 Research During Specialist Medical Training
- Chapter 2 Time Management When Planning and Conducting Medical Research
- Chapter 3 Computer Skills Required for Medical Research
- Chapter 4 Computer Skills Required for Medical Research: Social Media
- Chapter 5 Finding and Using Information in Your Research
- Chapter 6 Critical Appraisal of the Medical Literature
- Chapter 7 Evidence-based Medicine and Translating Research into Practice
- Chapter 8 Clinical Audit for Quality Improvement
- Chapter 9 A Journey of Exploration
- Chapter 10 Randomised Clinical Trials
- Chapter 11 Animal Research and Alternatives
- Chapter 12 Genetic and Epigenetic Research
- Chapter 13 ‘Omic’ Research
- Chapter 14 Data Management in Medical Research
- Chapter 15 Statistics in Medical Research
- Chapter 16 Epidemiological Research
- Chapter 17 Informing Patients, Consent, Governance and Good Clinical Practice
- Chapter 18 Patient Involvement in Medical Research
- Chapter 19 Research in the National Health Service
- Chapter 20 Supervising Medical Research and Being Supervised
- Chapter 21 Funding Medical Research
- Chapter 22 The Purpose and Practice of Medical Research Meetings
- Chapter 23 How to Present a Medical Research Paper
- Chapter 24 How to Write a Medical Research Paper and Get It Accepted for Publication
- Chapter 25 How to Write a Medical Thesis
- Obstetrics and Gynaecology Supplement
- B Research in Fetal Medicine
- C Research in Maternal Medicine
- D Research in Benign Gynaecology
- E Research in Gynaecological Oncology
- Index
- References
Summary
A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
- Type
- Chapter
- Information
- Publisher: Cambridge University PressPrint publication year: 2017
References
Shaffer, LG, Bui, TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet. 2007 Feb 15;145 C(1):87–98.
Wan, TS. Cancer cytogenetics: Methodology revisited. Ann Lab Med. 2014 Nov;34(6):413–25. doi: 10.3343/alm.2014.34.6.413.
Saiki, RK, Gelfand, DH, Stoffel, S, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–91.
Ragoussis, J. Genotyping technologies for genetic research. Annu Rev Genomics Hum Genet. 2009;10:117–33. doi: 10.1146/annurev-genom-082908-150116.
Plunkett, J, Borecki, I, Morgan, T, Stamilio, D, Muglia, LJ. Population-based estimate of sibling risk for preterm birth, preterm premature rupture of membranes, placental abruption and pre-eclampsia. BMC Genet. 2008 Jul 8;9:44. doi: 10.1186/1471-2156-9–44.
Cnattingius, S, Reilly, M, Pawitan, Y, Lichtenstein, P. Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: a population-based Swedish cohort study. Am J Med Genet A. 2004 Nov 1;130A(4):365–71.
Pulst, SM. Genetic Linkage Analysis. Arch Neurol. 1999 Jun;56(6):667–72.
Lewis, CM, Knight, J. Introduction to genetic association studies. Cold Spring Harb Protoc. 2012 Mar 1;2012(3):297–306. doi: 10.1101/pdb.top068163.
Manolio, TA, Brooks, LD, Collins, FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest. 2008 May;118(5):1590–605. doi: 10.1172/JCI34772.
The International HapMap Consortium, Frazer, KA, Ballinger, DG, Cox, DR, Hinds, DA, Stuve, LL, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18;449(7164):851–61.
The 1000 Genomes Project Consortium, Abecasis, GR, Altschuler, D, Auton, A, Brooks, LD, Durbin, RM, et al. A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28;467(7319):1061–73. doi: 10.1038/nature09534.
McCarthy, MI, Abecasis, GR, Cardon, LR, et al. Genome-wide association studies for complex traits: Consensus, uncertainty and challenges. Nat Rev Genet. 2008 May;9(5):356–69. doi: 10.1038/nrg2344.
Voight, BF, Scott, LJ, Steinthorsdottir, V, et. al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010 Jul;42(7):579–89. doi: 10.1038/ng.609.
Gibson, G. Rare and common variants: twenty arguments. Nat Rev Genet. 2012 Jan 18;13(2):135–45. doi: 10.1038/nrg3118.
Auer, PL, Lettre, G. Rare variant association studies: considerations, challenges and opportunities. Genome Med. 2015 Feb 23;7(1):16. doi: 10.1186/s13073-015-0138-2. eCollection 2015.
Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7;447(7145):661–78.
Tammen, SA, Friso, S, Choi, SW Epigenetics: the link between nature and nurture. Mol Aspects Med. 2013 Jul-Aug;34(4):753–64. doi: 10.1016/j.mam.2012.07.018.
Jones, PA. Functions of DNA methylation: Islands, start sites, gene bodies and beyond. Nat Rev Genet. 2012 May 29;13(7):484–92. doi: 10.1038/nrg3230.
Fraga, MF, Ballestar, E, Paz, MF, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A. 2005 Jul 26;102(30):10604–9.
Kaminsky, ZA, Tang, T, Wang, SC, et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet. 2009 Feb;41(2):240–5. doi: 10.1038/ng.286.
van Dongen, J, Ehli, EA, Slieker, RC, et al. Epigenetic variation in monozygotic twins: A genome-wide analysis of DNA methylation in buccal cells. Genes (Basel). 2014 May 5;5(2):347–65. doi: 10.3390/genes5020347.
Bell, JT, Spector, TD. DNA methylation studies using twins: what are they telling us? Genome Biol. 2012 Oct 18;13(10):172. doi: 10.1186/gb-2012-13-10–172.
Laird, PW. Principles and challenges of genomewide DNA methylation analysis. Nat Rev Genet. 2010 Mar;11(3):191–203. doi: 10.1038/nrg2732.
Joubert, BR, Haberg, SE, Nilsen, RM, et al. 450 k epigenome-wide scan identifies differential DNA methylation in newborns related to maternal smoking during pregnancy. Environ Health Perspect. 2012 Oct;120(10):1425–31. doi: 10.1289/ehp.1205412.
Lee, KW, Richmond, R, Hu, P, et al. Prenatal exposure to maternal cigarette smoking and DNA methylation: epigenome-wide association in a discovery sample of adolescents and replication in an independent cohort at birth through 17 years of age. Environ Health Perspect. 2015 Feb;123(2):193–9. doi: 10.1289/ehp.1408614.
Suter, M, Ma, J, Harris, A, et al. Maternal tobacco use modestly alters correlated epigenome-wide placental DNA methylation and gene expression. Epigenetics. 2011 Nov;6(11):1284–94. doi: 10.4161/epi.6.11.17819.
Anton, L, Brown, AG, Bartolomei, MS, Elovitz, MA. Differential methylation of genes associated with cell adhesion in preeclamptic placentas. PLoS One. 2014 Jun 25;9(6):e100148. doi: 10.1371/journal.pone.0100148.
Chu, T, Bunce, K, Shaw, P, et al. Comprehensive analysis of preeclampsia-associated DNA methylation in the placenta. PLoS One. 2014 Sep 23;9(9):e107318. doi: 10.1371/journal.pone.0107318.
Cookson, W, Liang, L, Abecasis, G, Moffatt, M, Lathrop, M. Mapping complex disease traits with global gene expression. Nat Rev Genet. 2009 Mar;10(3):184–94. doi: 10.1038/nrg2537.
Brazma, A, Hingamp, P, Quackenbush, J, Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. Nat Genet. 2001 Dec;29(4):365–71.
Wang, K, Li, M, Hakonarson, H. Analysing biological pathways in genome-wide association studies. Nat Rev Genet. 2010 Dec;11(12):843–54. doi: 10.1038/nrg2884.
Wray, NR, Yang, J, Hayes, BJ, Price, AL, Goddard, ME, Visscher, PM. Pitfalls of predicting complex traits from SNPs. Nat Rev Genet. 2013 Jul;14(7):507–15. doi: 10.1038/nrg3457.
Roadmap Epigenetics Consortium, Kundaje, A, Meuleman, W, Ernst, J, et al. Integrative analysis of 111 reference human epigenomes. Nature. 2015 Feb 19;518(7539):317–30. doi: 10.1038/nature14248.