• The word "allele" is a short form of allelomorph ("other form", a word coined by British geneticists William Bateson and Edith Rebecca Saunders ), which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes . (wikipedia.org)
  • The interaction of multiple genes-and the variation in these genes ("alleles") between individuals-help to determine a person's eye color phenotype . (wikipedia.org)
  • AIRR sequencing (AIRR-seq) studies rely on databases of known BCR germline variable (V), diversity (D), and joining (J) genes to detect somatic mutations in AIRR-seq data via comparison to the best-aligning database alleles. (frontiersin.org)
  • We previously presented TIgGER, a computational method to identify subject-specific V gene genotypes, including the presence of novel V gene alleles, directly from AIRR-seq data. (frontiersin.org)
  • Here we present and apply an improved version of the TIgGER algorithm which can detect alleles that differ by any number of SNPs from the nearest database allele, and can construct subject-specific genotypes with minimal prior information. (frontiersin.org)
  • To assess the evolutionary stability of these lineages and the extent of ancestral polymorphisms of Ab within Mus species, we extended our restriction site polymorphism analysis to include 86 alleles from 120 independently derived H2 haplotypes from 12 separate species and subspecies of Mus. (ncku.edu.tw)
  • Here, we investigated the association between the presence of rare HRAS1 minisatellite alleles and lung cancer in the population studied. (aacrjournals.org)
  • Population stratification of 8500 alleles from 23 independent studies showed that aggregation of rare HRAS1 alleles appears twice as frequently in the genomes of cancer patients as in normal unaffected controls. (aacrjournals.org)
  • Furthermore, interracial variations in allele frequencies and variations between Caucasian subpopulations suggest that genetic variations may be involved in susceptibility to lung oncogenesis, especially in certain ethnic populations. (aacrjournals.org)
  • Alleles of the apolipoprotein E (ApoE) gene are known to modulate the genetic risk for developing late-onset Alzheimer's disease (AD) and have been associated with hippocampal volume differences in AD. (iospress.com)
  • Rare alleles were differentiated from common alleles ( a1 , a2 , a3 , and a4 ) by shifts in electrophoretic mobility. (aacrjournals.org)
  • Furthermore, a meta-analysis showed a higher distribution of rare alleles in our study of Caucasian Spaniards than was found in other studies of American and Northern European Caucasian populations. (aacrjournals.org)
  • The potential importance of these rare alleles is due to four principal findings. (aacrjournals.org)
  • However, the original algorithm was unable to detect alleles that differed by more than 5 single nucleotide polymorphisms (SNPs) from a database allele. (frontiersin.org)
  • Using a large cohort of more than 1,400 adolescents, this study found no hippocampal volume or hippocampal asymmetry differences between carriers and non-carriers of the ApoE ε4 or ε2 alleles, nor dose-dependent effects of either allele, suggesting that regionally specific effects of these polymorphisms may only become apparent in later life. (iospress.com)
  • A phylogenetic tree revealing the relationships of these Ab alleles with respect to restriction site polymorphisms, but excluding the retroposon insertions, demonstrated that these lineages have distinctive genomic structures beyond the retroposon polymorphisms. (ncku.edu.tw)
  • Are minor alleles more likely to be risk alleles? (biomedcentral.com)
  • Natural selection has led to a high tendency of risk alleles to be enriched in minor alleles in Mendelian diseases. (biomedcentral.com)
  • Using data in the NHGRI-EBI Catalog and the VARIMED database, we investigated whether (1) GWASs more easily detect risk alleles and (2) facilitate evolutionary insights by comparing risk allele frequencies of different diseases. (biomedcentral.com)
  • We conducted computer simulations of P -values for association tests when major and minor alleles were risk alleles. (biomedcentral.com)
  • We compared the expected proportion of SNVs whose risk alleles were minor alleles with the observed proportion. (biomedcentral.com)
  • 50% risk alleles were minor alleles because of the larger difference in the power of GWASs to differentiate between minor and major alleles, especially with low MAFs or when the number of controls exceeds the number of cases. (biomedcentral.com)
  • Minor alleles are more likely to be risk alleles in the published GWASs on complex diseases. (biomedcentral.com)
  • One reason is that minor alleles are more easily detected as risk alleles in GWASs. (biomedcentral.com)
  • Even when correcting for the GWAS's power imbalance, minor alleles are more likely to be risk alleles, especially in some diseases whose average risk allele frequencies are low. (biomedcentral.com)
  • They hypothesized that previously selectively neutral variants become risk alleles when the environment changes. (biomedcentral.com)
  • TIgGER predictions are validated both computationally (using a leave-one-out strategy) and experimentally (using genomic sequencing), resulting in the addition of three new immunoglobulin heavy chain V (IGHV) gene alleles to the IMGT repertoire. (frontiersin.org)
  • We report here the identification of a third allele, Cw*0503, in a Caucasian individual. (elsevier.com)
  • During thermal cycling, the relevant allele-specific primer binds to the template and elongates, thus attaching its tail sequence to the newly synthesized strand. (idtdna.com)
  • The complement of the allele-specific tail sequence is generated during subsequent rounds of PCR, enabling the FRET cassette to bind to the DNA. (idtdna.com)
  • In this report, we demonstrate by nucleotide sequencing that the genomic sequences of prototypic alleles from all three lineages diverge significantly and that lineage 3 is derived from lineage 2 by two insertional events in intron 2. (ncku.edu.tw)
  • All together, these methods allow for much higher accuracy in germline allele assignment, an essential step in AIRR-seq studies. (frontiersin.org)
  • All these six substitutions at the same positions have been found only in HLA-B*44 alleles, suggesting that Cw*0503 is a result of recombination between Cw*0501 and one of B*44 alleles. (elsevier.com)
  • Lineage 3 alleles were found only in the Mus musculus subspecies, suggesting that it diverged from lineage 2 more recently. (ncku.edu.tw)
  • Four hundred sixty-six HRAS1 VNTR alleles from 233 lung cancer patients and 892 alleles from 446 unaffected controls were typed using PCR-long agarose gel electrophoresis assay of peripheral blood lymphocyte DNA. (aacrjournals.org)
  • A higher percentage of rare HRAS1 VNTR alleles in lung cancer patients than in unaffected controls (32.7 versus 21.9%) was confirmed. (aacrjournals.org)
  • We conclude that the presence of rare HRAS1 VNTR alleles may be an inherited predisposing factor in lung cancer. (aacrjournals.org)
  • Odds ratio was calculated to evaluate increased risk of lung cancer associated to the presence of rare HRAS1 alleles. (aacrjournals.org)