Genome Wide Association Studies in  Molecular Medicine

Genome Wide Association Studies in Molecular Medicine

Dr. Fahmida Khatoon *

Contact

Genome Wide Association Studies in Molecular Medicine

Article Fingerprint

ReserarchID

6K61J

Genome Wide Association Studies in Molecular Medicine Banner

AI TAKEAWAY

Connecting with the Eternal Ground

Abstract

Chapter 1: Introduction-The achievements in Human Genome Project and subsequent advancements observed in Genotyping techniques have led an influx of exciting new era of discovering human genome and genetics. These technologies have provided the scientists with a comprehensive data on human genomes and have introduced state-of-art methods of investigating the fundamentals of forensic medicine (Moore 2009). The Human genome is now capable to incite in depth and precise data information and allows access into processes that extract detailed sequences for genomics in order to analyze and answer not only theoretical questions but also identifies the practically feasible genetic characteristics (Moore 2009).

References

99 Cites in Article

Reference Format

Habiba Al Safar,Fatima Abidi,Kamal Khazanehdari,Ian Dadour,Guan Tay (2011). Evaluation of different sources of DNA for use in genome wide studies and forensic application.
D Alexander,J Novembre,K Lange (2009). Fast Model-Based Estimation of Ancestry in Unrelated Individuals.
Carl Anderson,Fredrik Pettersson,Geraldine Clarke,Lon Cardon,Andrew Morris,Krina Zondervan (2010). Data quality control in genetic case-control association studies.
T Bird (2005). Genetic Factors in Alzheimer's Disease.
Rosemary Braun,William Rowe,Carl Schaefer,Jinghui Zhang,Kenneth Buetow (2009). Needles in the Haystack: Identifying Individuals Present in Pooled Genomic Data.
Leo Breiman (2001). Random Forests.
M Browne,S Keeley (2001). Asking the right questions: a guide to critical thinking.
L Cardon,J Bell (2001). Association study designs for complex diseases.
S Chanock,T Manolio,M Boehnke,E Boerwinkle,D Hunter,G Thomas,J Hirschhorn (2007). Replicating Genotype-Phenotype Associations.
Wei-Min Chen,Gonçalo Abecasis (2007). Family-Based Association Tests for Genomewide Association Scans.
Yujin Chung,Seung Lee,Robert Elston,Taesung Park (2007). Odds ratio based multifactor-dimensionality reduction method for detecting gene–gene interactions.
George Church,Catherine Heeney,Naomi Hawkins,Jantina De Vries,Paula Boddington,Jane Kaye,Martin Bobrow,Bruce Weir (2009). Public Access to Genome-Wide Data: Five Views on Balancing Research with Privacy and Protection.
Donald Conrad,Mattias Jakobsson,Graham Coop,Xiaoquan Wen,Jeffrey Wall,Noah Rosenberg,Jonathan Pritchard (2006). A worldwide survey of haplotype variation and linkage disequilibrium in the human genome.
Heather Cordell (2009). Detecting gene–gene interactions that underlie human diseases.
J Creswell (2009). Research Design Qualitative, Quantitative, and Mixed Methods Approaches Third Edition.
R Durbin,G Abecasis,D Altshuler,A Auton,L Brooks (2010). A Map of Human Genome Variation from Population-Scale Sequencing.
Brian Edwards,Chad Haynes,Mark Levenstien,Stephen Finch,Derek Gordon (2005). Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies.
Claus Ekstrøm,Bjarke Feenstra (2012). Detecting Sample Misidentifications in Genetic Association Studies.
E Eskin (2010). Variance Component Model to Account for Sample Structure in Genome Wide Association Studies.
Karol Estrada,Michael Krawczak,Stefan Schreiber,Kate Van Duijn,Lisette Stolk,Joyce Van Meurs,Fan Liu,Brenda Penninx,Jan Smit,Nicole Vogelzangs,Jouke Hottenga,Gonneke Willemsen,Eco De Geus,Mattias Lorentzon,Huberta Von Eller-Eberstein,Paul Lips,Natascha Schoor,Victor Pop,Jules De Keijzer,Albert Hofman,Yurii Aulchenko,Ben Oostra,Claes Ohlsson,Dorret Boomsma,Andre Uitterlinden,Cornelia Van Duijn,Fernando Rivadeneira,Manfred Kayser (2009). A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
L Fan,F Van Der Lijn,C Schurmann,Z Gu,M Chakravarty,P Hysi,& Daboul,A (2012). A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans.
Michelle Fernando,Christine Stevens,Emily Walsh,Philip De Jager,Philippe Goyette,Robert Plenge,Timothy Vyse,John Rioux (2008). Defining the Role of the MHC in Autoimmunity: A Review and Pooled Analysis.
Kelly Frazer,Sarah Murray,Nicholas Schork,Eric Topol (2009). Human genetic variation and its contribution to complex traits.
M Freedman,D Reich,K Penney,G Mcdonald,A Mignault,N Patterson,S Gabriel,E Topol,J Smoller,C Pato,M Pato,T Petryshen,L Kolonel,E Lander,P Sklar,B Henderson,J Hirschhorn,D Altshuler (2004). Assessing the Impact of Population Stratification on Genetic Association Studies.
Genome-Wide Association Scans.
Greg Gibson (2010). Hints of hidden heritability in GWAS.
Ju-Hyun Park,Sholom Wacholder,Mitchell Gail,Ulrike Peters,Kevin Jacobs,Stephen Chanock,Nilanjan Chatterjee (2010). Estimation of effect size distribution from genome-wide association studies and implications for future discoveries.
P Gill,R Puch-Solis,J Curran (2009). The lowtemplate-DNA (stochastic) threshold -its determination relative to risk analysis for national DNA databases.
Dov Greenbaum,Jiang Du,Mark Gerstein (2008). Genomic Anonymity: Have We Already Lost It?.
Casey Greene,Nadia Penrod,Scott Williams,Jason Moore (2009). Failure to Replicate a Genetic Association May Provide Important Clues About Genetic Architecture.
J Gudmundsson,P Sulem,A Manolescu,L Amundadottir,D Gudbjartsson,A Helgason,T Rafnar,J Bergthorsson,B Agnarsson,A Baker,A Sigurdsson,K Benediktsdottir,M Jakobsdottir,J Xu,T Blondal,J Kostic,J Sun,S Ghosh,S Stacey,M Mouy,J Saemundsdottir,V Backman,K Kristjansson,A Tres,A Partin,M Albers-Akkers,J Godino-Ivan Marcos,P Walsh,D Swinkels,S Navarrete,S Isaacs,K Aben,T Graif,J Cashy,M Ruiz-Echarri,K Wiley,B Suarez,J Witjes,M Frigge,C Ober,E Jonsson,G Einarsson,J Mayordomo,L Kiemeney,W Isaacs,W Catalona,R Barkardottir,J Gulcher,U Thorsteinsdottir,A Kong,K Stefansson (2007). Genome-Wide Association Study Identifies a Second Prostate Cancer Susceptibility Variant at 8q24.
Kevin Gunderson,Kenneth Kuhn,Frank Steemers,Pauline Ng,Sarah Murray,Richard Shen (2006). Whole-Genome Genotyping of Haplotype Tag Single Nucleotide Polymorphisms.
C Hart (2005). Doing Reflexive Research: Situating Your Dissertation.
Hua He,William Oetting,Marcia Brott,Saonli Basu (2009). Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene Interaction in a case-control study.
Agnar Helgason,Bryndís Yngvadóttir,Birgir Hrafnkelsson,Jeffrey Gulcher,Kári Stefánsson (2005). An Icelandic example of the impact of population structure on association studies.
Lucia Hindorff,Praveen Sethupathy,Heather Junkins,Erin Ramos,Jayashri Mehta,Francis Collins,Teri Manolio (2009). Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
Nils Homer,Szabolcs Szelinger,Margot Redman,David Duggan,Waibhav Tembe,Jill Muehling,John Pearson,Dietrich Stephan,Stanley Nelson,David Craig (2008). Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays.
X Hu,Q Liu,Z Zhang,Z Li,S Wang,L He,Y Shi (2010). SHEsisEpi, a GPU Enhanced Genome-Wide SNP-SNP Interaction Scanning Algorithm, Efficiently Reveals the Risk Genetic Epistasis in Bipolar Disorder.
Lucy Huang,Yun Li,Andrew Singleton,John Hardy,Gonçalo Abecasis,Noah Rosenberg,Paul Scheet (2009). Genotype-Imputation Accuracy across Worldwide Human Populations.
(2003). Policies on the release of human genomic sequence data: bermuda-quality sequence.
K Jacobs,M Yeager,S Wacholder,D Craig,P Kraft,D Hunter,& Chatterjee,N (2009). A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies.
Eveliina Jakkula,Karola Rehnström,Teppo Varilo,Olli Pietiläinen,Tiina Paunio,Nancy Pedersen,Ulf Defaire,Marjo-Riitta Järvelin,Juha Saharinen,Nelson Freimer,Samuli Ripatti,Shaun Purcell,Andrew Collins,Mark Daly,Aarno Palotie,Leena Peltonen (2008). The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population.
M Jakobsson (2008). Genotype, haplotype and copy number variation in worldwide human populations.
Andrew Johnson,Richard Leslie,Christopher O'donnell (2011). Temporal Trends in Results Availability from Genome-Wide Association Studies.
H Kang,J Sul,S Service,N Zaitlen,S Kong,N Freimer,C Sabatti,M Kayser,P De Knijff (2011). Improving human forensics through advances in genetics, genomics and molecular biology.
M Kayser,P Schneider (2009). DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations.
Manfred Kayser,Fan Liu,A Janssens,Fernando Rivadeneira,Oscar Lao,Kate Van Duijn,Mark Vermeulen,Pascal Arp,Mila Jhamai,Wilfred Van Ijcken,Johan Den Dunnen,Simon Heath,Diana Zelenika,Dominiek Despriet,Caroline Klaver,Johannes Vingerling,Paulus De Jong,Albert Hofman,Yurii Aulchenko,Andre Uitterlinden,Ben Oostra,Cornelia Van Duijn (2008). Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene.
Charles Kooperberg,Michael Leblanc (2008). Increasing the power of identifying gene × gene interactions in genome‐wide association studies.
Minjung Kwak,Jungnam Joo,Gang Zheng (2009). A Robust Test for Two‐Stage Design in Genome‐Wide Association Studies.
Cathy Laurie,Kimberly Doheny,Daniel Mirel,Elizabeth Pugh,Laura Bierut,Tushar Bhangale,Frederick Boehm,Neil Caporaso,Marilyn Cornelis,Howard Edenberg,Stacy Gabriel,Emily Harris,Frank Hu,Kevin Jacobs,Peter Kraft,Maria Landi,Thomas Lumley,Teri Manolio,Caitlin Mchugh,Ian Painter,Justin Paschall,John Rice,Kenneth Rice,Xiuwen Zheng,Bruce Weir (2010). Quality control and quality assurance in genotypic data for genome‐wide association studies.
S Lee,Y Chung,R Elston,Y Kim,T Park (2007). Log-Linear Model-Base Multifactor Dimensionality Reduction Method to Detect genegene Interactions.
R Lewontin (2006). Commentary: Statistical analysis or biological analysis as tools for understanding biological causes.
Fan Liu,Maksim Struchalin,Kate Van Duijn,Albert Hofman,André Uitterlinden,Cornelia Van Duijn,Yurii Aulchenko,Manfred Kayser (2011). Detecting Low Frequent Loss-of-Function Alleles in Genome Wide Association Studies with Red Hair Color as Example.
Xiang-Yang Lou,Guo-Bo Chen,Lei Yan,Jennie Ma,Jun Zhu,Robert Elston,Ming Li (2007). A Generalized Combinatorial Approach for Detecting Gene-by-Gene and Gene-by-Environment Interactions with Application to Nicotine Dependence.
Tillmann Lueders,Michael Friedrich (2003). Evaluation of PCR Amplification Bias by Terminal Restriction Fragment Length Polymorphism Analysis of Small-Subunit rRNA and <i>mcrA</i> Genes by Using Defined Template Mixtures of Methanogenic Pure Cultures and Soil DNA Extracts.
E Mangold (2010). Genome wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft plate.
Ani Manichaikul,Josyf Mychaleckyj,Stephen Rich,Kathy Daly,Michèle Sale,Wei-Min Chen (2010). Robust relationship inference in genome-wide association studies.
Teri Manolio,Lisa Brooks,Francis Collins (2008). A HapMap harvest of insights into the genetics of common disease.
Teri Manolio,Francis Collins,Nancy Cox,David Goldstein,Lucia Hindorff,David Hunter,Mark Mccarthy,Erin Ramos,Lon Cardon,Aravinda Chakravarti,Judy Cho,Alan Guttmacher,Augustine Kong,Leonid Kruglyak,Elaine Mardis,Charles Rotimi,Montgomery Slatkin,David Valle,Alice Whittemore,Michael Boehnke,Andrew Clark,Evan Eichler,Greg Gibson,Jonathan Haines,Trudy Mackay,Steven Mccarroll,Peter Visscher (2004). Finding the missing heritability of complex diseases.
Urko Marigorta,Oscar Lao,Ferran Casals,Francesc Calafell,Carlos Morcillo-Suárez,Rui Faria,Elena Bosch,François Serra,Jaume Bertranpetit,Hernán Dopazo,Arcadi Navarro (2011). Recent human evolution has shaped geographical differences in susceptibility to disease.
Terence Marsh,Paul Saxman,James Cole,James Tiedje (2000). Terminal Restriction Fragment Length Polymorphism Analysis Program, a Web-Based Research Tool for Microbial Community Analysis.
Nicholas Masca,Paul Burton,Nuala Sheehan (2011). Participant identification in genetic association studies: improved methods and practical implications.
S Mccarroll,P Visscher (2009). Findingthe Missing Heritability of Complex Diseases.
Taku Miyagawa,Nao Nishida,Jun Ohashi,Ryosuke Kimura,Akihiro Fujimoto,Minae Kawashima,Asako Koike,Tsukasa Sasaki,Hisashi Tanii,Takeshi Otowa,Yoshio Momose,Yasuo Nakahara,Jun Gotoh,Yuji Okazaki,Shoji Tsuji,Katsushi Tokunaga (2008). Appropriate data cleaning methods for genome-wide association study.
Jason Moore,Bill White (2007). Tuning ReliefF for Genome-Wide Genetic Analysis.
Jason Moore,Scott Williams (2005). Traversing the conceptual divide between biological and statistical epistasis: systems biology and a more modern synthesis.
Jason Moore,Scott Williams (2009). Epistasis and Its Implications for Personal Genetics.
Valentina Moskvina,Nick Craddock,Bertram Müller-Myhsok,Tony Kam-Thong,Elaine Green,Peter Holmans,Michael Owen,Michael O'donovan (2011). An Examination of Single Nucleotide Polymorphism Selection Prioritization Strategies for Tests of Gene–Gene Interaction.
Alison Motsinger‐reif,Scott Dudek,Lance Hahn,Marylyn Ritchie (2008). Comparison of approaches for machine‐learning optimization of neural networks for detecting gene‐gene interactions in genetic epidemiology.
Anna Need,David Goldstein (2009). Next generation disparities in human genomics: concerns and remedies.
Dale Nyholt,Chang-En Yu,Peter Visscher (2008). On Jim Watson's APOE status: genetic information is hard to hide.
A Osborn,Edward Moore,Kenneth Timmis (2000). An evaluation of terminal‐restriction fragment length polymorphism (T‐RFLP) analysis for the study of microbial community structure and dynamics.
P Jupp,B (2001). Divided by information? The ''digital divide'' that really matters and the implications of the new meritocracy.
Kader Parahoo (2006). The Research Process and Ethical Issues.
A Price,J Butler,N Patterson,C Capelli,V Pascali,F Scarnicci,& Hirschhom,J (2008). Discerning the Ancestry of European Americans in Genetic Association Studies.
Alkes Price,Nick Patterson,Robert Plenge,Michael Weinblatt,Nancy Shadick,David Reich (2006). Principal components analysis corrects for stratification in genome-wide association studies.
Alkes Price,Noah Zaitlen,David Reich,Nick Patterson (2010). New approaches to population stratification in genome-wide association studies.
Jon Mcclellan,Mary-Claire King (2010). Genetic Heterogeneity in Human Disease.
Shaun Purcell,Benjamin Neale,Kathe Todd-Brown,Lori Thomas,Manuel Ferreira,David Bender,Julian Maller,Pamela Sklar,Paul De Bakker,Mark Daly,Pak Sham (2007). PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses.
Neil Risch,Richard Herrell,Thomas Lehner,Kung-Yee Liang,Lindon Eaves,Josephine Hoh,Andrea Griem,Maria Kovacs,Jurg Ott,Kathleen Merikangas (2009). Interaction Between the Serotonin Transporter Gene (5-HTTLPR), Stressful Life Events, and Risk of Depression.
Marylyn Ritchie,Alison Motsinger (2005). Multifactor Dimensionality Reduction for Detecting Gene–Gene and Gene–Environment Interactions in Pharmacogenomics Studies.
Marylyn Ritchie,Lance Hahn,Jason Moore (2003). Power of multifactor dimensionality reduction for detecting gene‐gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity.
N Rosenberg (2010). Genome-wide association studies in diverse populations.
Nicholas Schork,Sarah Murray,Kelly Frazer,Eric Topol (2009). Common vs. rare allele hypotheses for complex diseases.
Haifeng Shao,Lindsay Burrage,David Sinasac,Annie Hill,Sheila Ernest,William O'brien,Hayden-William Courtland,Karl Jepsen,Andrew Kirby,E Kulbokas,Mark Daly,Karl Broman,Eric Lander,Joseph Nadeau (2008). Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis.
Richard Spielman,Warren Ewens (1993). Relatives‐based Test for Linkage Disequilibrium: The Transmission/Disequilibrium Test (TDT).
Patrick Taylor (2008). When consent gets in the way.
Duncan Thomas (2010). Gene–environment-wide association studies: emerging approaches.
C Tian,P Gregersen,M Seldin (2008). Accounting for ancestry: population substructure and genome-wide association studies.
Chao Tian,Robert Plenge,Michael Ransom,Annette Lee,Pablo Villoslada,Carlo Selmi,Lars Klareskog,Ann Pulver,Lihong Qi,Peter Gregersen,Michael Seldin (2008). Analysis and Application of European Genetic Substructure Using 300 K SNP Information.
Digna Velez,Bill White,Alison Motsinger,William Bush,Marylyn Ritchie,Scott Williams,Jason Moore (2007). A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction.
Peter Visscher (2008). Sizing up human height variation.
Peter Visscher,William Hill,Naomi Wray (2008). Heritability in the genomics era — concepts and misconceptions.
Hansong Wang,Duncan Thomas,Itsik Pe'er,Daniel Stram (2006). Optimal two‐stage genotyping designs for genome‐wide association scans.
Y Wang,G Liu,M Feng,L Wong (2011). An Empirical Comparison of several Recent Epistatic Interaction Detection Methods.
Bruce Weir,Amy Anderson,Amanda Hepler (2006). Genetic relatedness analysis: modern data and new challenges.
(2003). The Academy of Medical Sciences, Association of Medical Research Charities, Cancer Research UK, Biotechnology and Biological Sciences Research Council, Medical Research Council, Progress Educational Trust, Wellcome Trust, Wellcome Trust Sanger Institute (UK) Genome Editing in Human Cells – Initial Joint Statement.
Zhiwu Zhang,Elhan Ersoz,Chao-Qiang Lai,Rory Todhunter,Hemant Tiwari,Michael Gore,Peter Bradbury,Jianming Yu,Donna Arnett,Jose Ordovas,Edward Buckler (2010). Mixed linear model approach adapted for genome-wide association studies.
Gang Zheng,Xin Tian (2005). The impact of diagnostic error on testing genetic association in case–control studies.

Download References

Funding

No external funding was declared for this work.

Conflict of Interest

The authors declare no conflict of interest.

Ethical Approval

No ethics committee approval was required for this article type.

Data Availability

Not applicable for this article.

How to Cite This Article

Dr. Khatoon. 2021. "Genome Wide Association Studies in Molecular Medicine". Global Journal of Science Frontier Research, Global Journal of Science Frontier Research - G: Bio-Tech & Genetics GJSFR-G Volume 21 (GJSFR Volume 21 Issue G1).

More Citation Formats

Select Citation Style:

Download Citation

GJSFR Volume 21 Issue G1

Explore Journals Explore Volume Read This Issue

Journal Specifications

Crossref Journal DOI 10.17406/GJSFR

Print ISSN 0975-5896

e-ISSN 2249-4626

Keywords

Not Found

Classification

GJSFR-G Classification FOR Code: 060199

Submission ReceivedJanuary 1, 1970
Peer Review Double Blind
Handling Editor
Accepted January 1, 1970

Version of record

v1.2

Issue date

October 21, 2021

Language

English

Experiance in AR

Explore published articles in an immersive Augmented Reality environment. Our platform converts research papers into interactive 3D books, allowing readers to view and interact with content using AR and VR compatible devices.

View in VR

Read in 3D

Your published article is automatically converted into a realistic 3D book. Flip through pages and read research papers in a more engaging and interactive format.

View in 3D

Article Matrices

Total Views: 499

Total Downloads: 41

All Trends