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*  Tag SNP
Genome-wide association studies (GWAS) use single-nucleotide polymorphisms (SNPs) to identify genetic associations with ... Association studies are used to determine the genetic influence on phenotypic presentation. Although mostly used for mapping ... When haplotypes are used for genome wide association studies, it is important to note the population being studied. Often ... Tag SNPs are useful in whole-genome SNP association studies in which hundreds of thousands of SNPs across the entire genome are ...
*  Rs6313
"Replication validity of genetic association studies". Nature Genetics. 29 (3): 306-309. doi:10.1038/ng749. PMID 11600885. CS1 ... One study found no association between the SNP and suicidal behavior in a Chinese population, and another found no association ... Bagade S, Allen NC, Tanzi R, Bertram L. "GENE OVERVIEW OF ALL PUBLISHED PD-ASSOCIATION STUDIES FOR HTR2A". The PDGene Database ... A meta-analysis published in 1998 found an association. Many individual studies have been done to investigate possible effects ...
*  John Ioannidis
"Replication validity of genetic association studies". Nature Genetics. 29 (3): 306-309. doi:10.1038/ng749. ISSN 1061-4036. PMID ... of the studies were contradicted, 7 (16%) had effects that were smaller in the second study than in the first, 20 (44%) were ... The paper compared the 45 studies that claimed to have uncovered effective interventions to subsequent studies with larger ... He has also made a number of contributions in the field of meta-analysis (the science of combining data from multiple studies ...
*  Multiple comparisons problem
... and genotypes for millions of genetic markers can be measured. Particularly in the field of genetic association studies, there ... Qu, Hui-Qi; Tien, Matthew; Polychronakos, Constantin (2010-10-01). "Statistical significance in genetic association studies". ... Alternatively, if a study is viewed as exploratory, or if significant results can be easily re-tested in an independent study, ... a result being strongly statistically significant in one study but failing to be replicated in a follow-up study. Such non- ...
*  Microfluidic whole genome haplotyping
It will further inform genetic association studies. As methods for amplification of small amounts of DNA improve, single ... Most of the knowledge of SNP association comes from the effort of the International HapMap Project, which has proved itself a ... The nucleus is lysed mechanically on a glass slide and part of the genetic material is partitioned under microscope. The actual ... Finally, since this entire process is based on amplification from a single cell, the accuracy of any genetic analysis is ...
*  Snagger
"Efficiency and power in genetic association studies.". Nature Genetics 37: 1217-1223. Snagger Homepage Haploview Homepage ...
*  David Altshuler
"Efficiency and power in genetic association studies". Nature Genetics. 37 (11): 1217-1223. doi:10.1038/ng1669. PMID 16244653. ... He was also a faculty member in the Department of Molecular Biology, Center for Human Genetic Research, and the Diabetes Unit, ... He has co-led the SNP Consortium, International HapMap Project, and 1000 Genomes Project His research focused on the genetic ... Among his awards are election to the American Society for Clinical Investigation, the Association of American Physicians, and ...
*  DbSNP
2005). "Efficiency and power in genetic association studies". Nature Genetics. 37 (11): 1217-1223. doi:10.1038/ng1669. PMID ... 2010) suggested that authors of negative association studies inspect their previous studies for false SNPs (SNDs), which could ... Errors may also increase false conclusions in association studies: increasing the number of SNPs that are tested by testing ... In addition, dbSNP guides applied research in pharmacogenomics and the association of genetic variation with phenotypic traits ...
*  Haploview
... in genetic data. Haploview can also perform association studies, choosing tagSNPs and estimating haplotype frequencies. ... "Efficiency and power in genetic association studies" (PDF). Nature Genetics. 37 (11): 1217-23. doi:10.1038/ng1669. PMID ... Haplotype population frequency estimation Single SNP and haplotype association tests Permutation testing for association ... algorithm Automatic download of phased genotype data from HapMap Visualization and plotting of PLINK whole genome association ...
*  Psychiatric genetics
An analysis of a linkage study uses a wide chromosomal region, whereas a genetic association study endeavors to identify a ... doi:10.1007/s11920-005-0012-9. Bellivier, F. (2003). "Genetic association studies: definition of cases and controls". In ... In one study, 100% of patients with bipolar disorder indicated that they would probably take a genetic test to determine if he ... Case-control association studies can be used as an exploratory tool for narrowing the area of interest after preliminary ...
*  Microcephalin
Lahn is now engaging himself with other areas of study. Later genetic association studies by Mekel-Bobrov et al. and Evans et ... The controversy was reinforced by a study dating from 2014, this study suggests that there is a strong correlation (0.79) ... and common genetic variants within both the MCPH1 gene and another similarly studied microcephaly gene, CDK5RAP2. Microcephalin ... scientists study of brain gene sparks a backlash Balter, M. (2006). "BRUCE LAHN PROFILE: Brain Man Makes Waves with Claims of ...
*  25-Hydroxyvitamin D3 1-alpha-hydroxylase
"A Large-scale genetic association study of esophageal adenocarcinoma risk". Carcinogenesis. 31 (7): 1259-63. doi:10.1093/carcin ... Carr EJ, Niederer HA, Williams J, Harper L, Watts RA, Lyons PA, Smith KG (2009). "Confirmation of the genetic association of ... Bu FX, Armas L, Lappe J, Zhou Y, Gao G, Wang HW, Recker R, Zhao LJ (Nov 2010). "Comprehensive association analysis of nine ... "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. doi:10.1371/ ...
*  DUSP23
2010). "A Large-scale genetic association study of esophageal adenocarcinoma risk". Carcinogenesis. 31 (7): 1259-63. doi: ... 2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. ... study". Diabetes Care. 33 (10): 2250-3. doi:10.2337/dc10-0452. PMC 2945168 . PMID 20628086. Tang JP, Tan CP, Li J, et al. (2010 ...
*  Volcano plot (statistics)
For example, in a genetic association case-control study, such as Genome-wide association study, a point in a volcano plot ... "Using volcano plots and regularized-chi statistics in genetic association studies". Computational Biology and Chemistry. 48: 77 ...
*  Genome-wide association study
A suggested alternative to linkage studies was the genetic association study. This study type asks if the allele of a genetic ... In genetics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or ... This type of study has been named genome-wide association study by proxy (GWAX). A central point of debate on GWA studies has ... "How to read a genome-wide association study". Genomes Unzipped. Consortia of genome-wide association studies (GWAS) - by ...
*  GJD2
2007). "Gap junction coding genes and schizophrenia: a genetic association study". J. Hum. Genet. 52 (6): 498-501. doi:10.1007/ ... 2004). "Association of the connexin36 gene with juvenile myoclonic epilepsy". J. Med. Genet. 41 (7): e93. doi:10.1136/jmg. ... Hempelmann A, Heils A, Sander T (2006). "Confirmatory evidence for an association of the connexin-36 gene with juvenile ...
*  Alzheimer Research Forum
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nature Genetics 39, 17 - 23 ( ... gene association studies, epidemiological studies, antibodies, drug trials, protocols and antecedent biomarker studies. Of ... The AlzRisk database: Web-based catalogue and meta-analysis of findings from epidemiologic studies of non-genetic risk factors ... particular note are the AlzGene database of genetic studies of Alzheimer's disease, which has been cited more than 1,200 times ...
*  TONSL
... a genetic association study". Critical Care. 14 (6): R227. doi:10.1186/cc9377. PMC 3220025 . PMID 21171993. Ray P, Zhang DH, ...
*  Cystatin C
"Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database". Nat. Genet. 39 (1): 17-23. ... Genetic and prognostic studies also suggest a role for cystatin C. Breakdown of parts of the vessel wall in these conditions is ... "A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study". BMC Med. ... Longitudinal studies (following cystatin C over time) are scarcer, with some studies show promising results. Cystatin C levels ...
*  Medical genetics
Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN (2003). "Meta-analysis of genetic association studies supports a ... Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K (2002). "A comprehensive review of genetic association studies". Genet Med. ... Population substructure also can be used to advantage in genetic association studies. For example, populations that represent ... although the magnitude of this problem in genetic association studies is subject to debate. Various methods have been developed ...
*  Neurosarcoidosis
"First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis". Thorax. 65 (10): 939- ... "Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis". Nature Genetics. 40 (9): 1103- ... One study of 80 CVID patients found 8 of these had sarcoidosis, suggesting as high a prevalence in CVID populations as 1 in 10 ... An association between the two disorders has been suggested. The differing incidence across the world may be at least partially ...
*  TCF7L1
... differential expression and genetic association study". Osteoporosis International. 21 (1): 109-18. doi:10.1007/s00198-009-0931 ... "Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort". Molecular ... Model organisms have been used in the study of TCF7L1 function. A conditional knockout mouse line, called Tcf7l1tm1a(EUCOMM) ... "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337-42. doi:10.1038/ ...
*  KIRREL3
"New genetic associations detected in a host response study to hepatitis B vaccine". Genes and Immunity. 11 (3): 232-8. doi: ... participant-driven studies yield novel genetic associations for common traits". PLoS Genetics. 6 (6): e1000993. doi:10.1371/ ... "Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs". Molecular Psychiatry. 16 (3): 321-32. doi: ... evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study". ...
*  Photic sneeze reflex
"Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits". PLoS Genet. 6 (6): e1000993. doi: ... The genetic basis of photic sneezing still remains unclear, and single genes for this condition have not been found and studied ... The study also showed that photic sneezing is more likely to be acquired than inherited. During surgeries in and around the eye ... A study conducted by the School of Optometry at the University of Alabama at Birmingham, found that females represent 67% of ...
*  Trichohyalin
"Web-based, participant-driven studies yield novel genetic associations for common traits". PLoS Genetics. 6 (6): e1000993. doi: ...
*  New Delhi metallo-beta-lactamase 1
Indian studies have been done which demonstrate their dependency on zinc and the ability of zinc chelating agents like EDTA to ... In contrast, an editorial in the March 2010 issue of the Journal of Association of Physicians of India blamed the emergence of ... Hudson, Corey; Bent, Zachary; Meagher, Robert; Williams, Kelly (June 7, 2014). "Resistance Determinants and Mobile Genetic ... In March 2010, a study in a hospital in Mumbai found that most carbapenem-resistant bacteria isolated from patients carried the ...
*  Handedness
However, the growing weight of evidence from linkage and genome-wide association studies suggests that genetic variance in ... Armour, JA; Davison, A; McManus, IC (Sep 25, 2013). "Genome-wide association study of handedness excludes simple genetic models ... participant-driven studies yield novel genetic associations for common traits". PLOS Genetics. 6 (6): e1000993. doi:10.1371/ ... performed a genome-wide association study for a measure of relative hand skill and found that genes involved in the ...