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  • SNPs
  • Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). (nih.gov)
  • Forest plot of the per-allele OR for melanoma for SNPs in the 3 regions first identified in this study. (nih.gov)
  • SNPs upstream of SLC2A9 (rs6834555, P=3.0 × 10(-7)) and within VSNL1 (rs4038131, P=5.9 × 10(-7)) showed strongest evidence for association with AD+P when compared with controls. (nih.gov)
  • The y -axis scale has been limited to 10 (P = 1 × 10 −10 ), although highly significant association was observed with SNPs in the vicinity of the APOE locus when comparing AD+P cases with controls. (nih.gov)
  • Genotyping microarrays have enabled this success through the parallel genotyping of thousands of Single Nucleotide Polymorphisms (SNPs), capturing most of the common variation in the human genome. (plos.org)
  • Results: No SNPs reached genome-wide significance in the primary analysis or the secondary analysis of participants with hypertension. (harvard.edu)
  • High-density oligonucleotide microarrays containing a large number of single nucleotide polymorphisms (SNPs) have enabled genome-wide association (GWA) analysis to become a reality. (springer.com)
  • However, haplotype association tests, using 90730 tag-SNPs, suggested two regions in GLG1 and UGT1 genes retaining significance even after Bonferroni correction. (springer.com)
  • Nevertheless, without systematic replication, findings from this pilot study, especially the associations of breast cancer in relation to specific SNPs, should be interpreted with great caution. (springer.com)
  • analyses
  • This course is about statistics used in modern genome analyses. (helsinki.fi)
  • Combined with independent data from our previous study of 57,835 individuals, analyses indicate mosaicism is associated with male sex with 353 of 37,287 males (0.95%) and 191 of 33,223 females (0.57%) having mosaic events (p=0.001). (ashg.org)
  • genomics
  • In P. Cooley (Ed.), Methods in statistical genomics: In the context of genome-wide association studies (pp. 65-84). (rti.org)
  • Details are pretty sketchy, but a press release announced today suggests that personal genomics company 23andMe has performed a genome-wide association study comparing 100 current or former professional NFL players with a set of controls of unspecified sample size. (wired.com)
  • Recent technologies make it possible to read genomes so quickly and cheaply that numerous genomics-related services will be offered to us in future, for example, in health care context for personalized risk prediction and choice of therapies / medication. (helsinki.fi)
  • chromosome
  • Results: A strong association with CMH, consistent across all cohorts, was observed with rs6577641 (p = 4.25×10−6, OR = 1.17), located in intron 9 of the special AT-rich sequence-binding protein 1 locus (SATB1) on chromosome 3. (harvard.edu)
  • publish
  • The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. (plos.org)
  • diseases
  • These studies (which do not link your blood to your identity) may help scientists find out what genetic factors are associated with diseases such as diabetes, hypertension, heart disease, osteoporosis, cancer, and dementia. (whi.org)
  • This study is being trumpeted as a major success, and to some extent, it is-- for all diseases except hypertension, at least one strong signal and many weaker signals were identified. (gnxp.com)
  • results
  • Study record managers: refer to the Data Element Definitions if submitting registration or results information. (clinicaltrials.gov)
  • These results could provide important insights into the biological mechanism underlying the detected disease risk association. (plos.org)
  • It's unsurprising that the results of this study are negative (more on this below), but the conclusions they draw from this are fallacious. (wired.com)
  • a genome-wide association study on a highly complex trait with a sample size of 100 has, historically speaking, a vanishingly small chance of yielding any positive results at all. (wired.com)
  • Illumina
  • We performed an analysis of germline DNA derived from blood or buccal specimens from 24,849 individuals in 46 cancer-related studies using a modified mosaic alteration detection algorithm on renormalized B-allele frequencies and log2 relative probe intensity ratios from commercially available Illumina SNP arrays. (ashg.org)
  • regression
  • Chromosomal locations of P -values derived from 1-df trend tests from logistic regression model adjusted for study sites, age, gender, and 7 eigenvectors on 1,856 cases and 4,955 controls. (nih.gov)
  • common
  • These common variations have appeared as a significant area of interest, since they segregate in the population at an appreciable frequency and their analysis over big sample collections could potentially lead to significant disease risk associations. (plos.org)
  • The genome of an infant who lived in Alaska thousands of years ago represents a previously unknown group of humans called Ancient Beringians, who share a common lineage with other Native Americans. (the-scientist.com)
  • Population
  • In this study, we report on a case-control sample of Ashkenazi Jews (AJ), a founder population that may provide additional insights into genetic etiology of schizophrenia. (nih.gov)
  • cohorts
  • He added, "The effort in conducting genetic studies in our own Singaporean cohorts have to continue, as we are now showing that Singaporeans have a unique genetic make-up, and better understanding of this would make the goal of 'personalised medicine' not so remote in the near future. (medicalnewstoday.com)
  • fraction
  • However, the tiny fraction of the genome that varies among humans is what makes each person unique, for example, in terms of characteristics such as eye, skin, and hair color. (whi.org)
  • 1%) fraction of the genetic variance of the phenotype (as predicted from twin-studies). (unil.ch)
  • disease
  • To do this, the genomes of women with a particular disease are compared to similar women without the disease. (whi.org)
  • Once new genetic associations are identified, it may be possible to use the information to detect, treat, and prevent the disease. (whi.org)
  • Once we learn more about how genomes interact with these lifestyle and environmental factors to cause disease, we may be able to change our lifestyle habits or adapt our environment to lower our risk. (whi.org)
  • Based on the information contained in a person's genome, healthcare providers may be able to develop strategies that are more specific to you for detecting, treating, and preventing disease. (whi.org)
  • As correlational studies are largely hypothesis-generating, some of these will lead to major discoveries about the pathology of disease. (gnxp.com)
  • We further discuss implications of the observed difference between normal growth control and cancer for drug development, and the inherent features of genome-wide association studies that may specifically lead to identification of disease-specific regulatory elements. (aacrjournals.org)
  • As previous studies have suggested that optic disc area may be an indicator of susceptibility to glaucoma , a deeper understanding of what influences optic disc area may help in predicting a patient's susceptibility to the disease. (medicalnewstoday.com)
  • Collaborative Group on Hormonal Factorin Breast Cancer (2001) Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. (springer.com)
  • provide
  • The blood samples you provided early in the study, as well as the information you provided over the years and continue to provide annually through the mailed questionnaires, are helping scientists make major contributions to this growing area of research. (whi.org)