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  • genomic
  • Rather, it suggests that how genomic alterations interact cooperatively or partially redundantly to driver cancer changes in different types of cancers. (embopress.org)
  • Most genomic alterations that contribute to cancer affect proteins that are widely expressed and perform functions in most or all cells of the body. (embopress.org)
  • Zack et al , 2013 ), and indeed, individual genomic alterations vary in their potency to drive cancer when engineered in different cell types in mice (Castellano & Santos, 2011 ). (embopress.org)
  • Cooperation between two drivers is reflected in the co‐occurrence of the two genomic alterations in the same tumors more often than expected by chance. (embopress.org)
  • See also Grosse & Khoury, 2006 for the clinical utility of genetic testing, Offit, 2008 for issues surrounding genomic disease profiling, and Pharoah, 2008 for the possible utility of genomic profiling in breast cancer risk assessment. (tripod.com)
  • Finally, we consider how molecular networks could be used to link disease genotypes and phenotypes, and propose the use of networks to integrate scattered information - connecting genomic knowledge, detailed molecular information and precise medical descriptions of diseases, and ultimately taking into account an individual's genetic background to provide effective personalized medicine. (biomedcentral.com)
  • populations
  • Disentangling how these evolutionary forces shape the evolution of the virus at the population scale is important for understanding pathogenesis, how drug- and immune-escape variants are likely to spread in populations, and the development of preventive vaccines. (ox.ac.uk)
  • Admixture mapping (mapping by admixture linkage disequilibrium-MALD): An association-based approach to localizing disease-causing variants that differ in frequency between two historically separated populations by a whole-genome scan. (tripod.com)
  • Fundamental to the use of admixture mapping is the knowledge that the disease of interest exhibits frequency differences across the two populations because of genetic differences. (tripod.com)
  • There is a genetic difference between domestic and wild populations. (wikipedia.org)
  • genome
  • Previously, in a set of mitochondrial-nuclear introgression strains we characterized a dual genome epistasis in which a naturally occurring mutation in the D. simulans simw 501 mtDNA-encoded tRNA for tyrosine interacts with a mutation in the nuclear encoded mitochondrial localized tyrosyl-tRNA synthetase from D. melanogaster . (biologists.org)
  • By genotyping tens of thousands of genetic markers in yeast segregants and their clonal progeny, we analyzed post-meiotic segregation at a genome-wide scale. (springer.com)
  • In genetics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. (wikipedia.org)
  • GWA studies investigate the entire genome, in contrast to methods that specifically test a small number of pre-specified genetic regions. (wikipedia.org)
  • In this review, we describe the basic concepts and algorithms behind machine learning-based genetic feature selection approaches, their potential benefits and limitations in genome-wide setting, and how physical or genetic interaction networks could be used as a priori information for providing improved predictive power and mechanistic insights into the disease networks. (biomedcentral.com)
  • The recent advances and wide availability of genetic technologies, such as those based on genome-wide association (GWA) and next-generation sequencing (NGS), have allowed for the in-depth analysis of the variation contained in the human genome. (biomedcentral.com)
  • The largest genome-wide study to date failed to identify variants with genome-wide significance in over 9000 cases. (wikipedia.org)
  • Recently, a genetics study positively identified two variants with genome-wide association with major depressive disorder (MDD). (wikipedia.org)
  • The GEN2PHEN project aims to unify human and model organism genetic variation databases towards increasingly holistic views into Genotype-To-Phenotype (G2P) data, and to link this system into other biomedical knowledge sources via genome browser functionality. (wikipedia.org)
  • morphology
  • Here we show that the incompatible mitochondrial-nuclear combination results in locomotor defects, reduced mitochondrial respiratory capacity, decreased OXPHOS enzyme activity, and severe alterations in mitochondrial morphology. (biologists.org)
  • GWAS
  • This was not the case for African Americans, which suggests that the DG8S737- 8 microsatellite was either associated with increased PCA risk or is significantly correlated with other 8q24 sequence variants not detected in a GWAS scan or HapMap project. (biomedcentral.com)
  • predisposition
  • This disparity may be partially attributed to a combination of genetic predisposition and environmental exposures. (biomedcentral.com)
  • Taming is the conditioned behavioral modification of a wild-born animal when its natural avoidance of humans is reduced and it accepts the presence of humans, but domestication is the permanent genetic modification of a bred lineage that leads to an inherited predisposition toward humans. (wikipedia.org)
  • tumors
  • 3,000 tumors, we find that the co‐occurrence and mutual exclusivity relationships between cancer driver alterations change quite extensively in different types of cancer. (embopress.org)
  • 3,000 tumors shows that co‐occurrence and mutual exclusivity between cancer driver alterations change extensively in different cancer types, thus indicating plasticity of epistasis across cell types. (embopress.org)
  • Other cancer driver alterations interact antagonistically, having partially redundant effects giving rise to mutual exclusivity in their occurrence across individual tumors (Ciriello et al , 2012 ). (embopress.org)
  • PHENOTYPE
  • This study type asks if the allele of a genetic variant is found more often than expected in individuals with the phenotype of interest (e.g. with the disease being studied). (wikipedia.org)
  • While most studies have so far relied on statistical modeling and association testing procedures, machine learning and predictive modeling approaches are increasingly being applied to mining genotype-phenotype relationships, also among those associations that do not necessarily meet statistical significance at the level of individual variants, yet still contributing to the combined predictive power at the level of variant panels. (biomedcentral.com)
  • nuclear
  • Transgenic rescue strains containing nuclear variants of the tyrosyl-tRNA synthetase are sufficient to rescue many of the deleterious phenotypes identified when paired with the simw 501 mtDNA. (biologists.org)
  • polymorphisms
  • PMID 16935688 ] Beta2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study. (snpedia.com)
  • Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations. (snpedia.com)
  • BDNF polymorphisms have also been hypothesized to have a genetic influence, but replication results have been mixed and, as of 2005, were insufficient for a meta-analysis. (wikipedia.org)
  • disorders
  • However, the details of how these relationships work are far from clear, even in the case of most Mendelian disorders where single genetic alterations are fully penetrant (essentially causative, rather than risk modifying). (wikipedia.org)
  • diseases
  • This re‐wiring of epistasis across cell types is likely to be a basic feature of genetic architecture, with important implications for understanding the evolution of multicellularity and human genetic diseases. (embopress.org)
  • not in citation given] However, for common and complex diseases the results of genetic linkage studies proved hard to reproduce. (wikipedia.org)
  • analyses
  • Frequency distribution of P values showed a greater proportion of significant associations with the latent LVDF trait than for the measured endophenotypes, suggesting that analyses of the latent trait improved detection of the genetic underpinnings of LVDF. (beds.ac.uk)
  • genetics
  • THE central role of mitochondria in metabolism makes mitochondrial genetics fundamentally important for understanding both the genetic basis and the evolution of aging. (genetics.org)
  • specific genetic
  • New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. (snpedia.com)
  • Bipolar Disorder is a severe and debilitating psychiatric condition, for which the clinical course is highly variable between individuals, and the specific genetic causes remain largely obscure. (edu.au)
  • molecular
  • The origin and migration of modern humans can be documented with reasonable certainty with archeological, linguistic, & molecular genetic analysis. (brainscape.com)
  • risk
  • PMID 17199132 ] beta2-Adrenergic receptor gene variants and risk for autism in the AGRE cohort. (snpedia.com)
  • To clarify the role of 8q24 sequence variants in PCA susceptibility among men of African descent, we sought to confirm previous reports and generate new data on the role of seven 8q24 sequence variants in PCA risk among 864 men of African descent (195 cases and 531 disease-free men). (biomedcentral.com)
  • A meta analysis of 182 case controlled genetic studies published in 2008 found Apolipoprotein verepsilon 2 to be protective, and found GNB3 825T, MTHFR 677T, SLC6A4 44bp insertion or deletions, and SLC6A3 40 bpVNTR 9/10 genotype conferred risk. (wikipedia.org)
  • effects
  • It is well established that the genetic alterations that drive cancer often interact epistatically, having greater or weaker consequences in combination than expected from their individual effects. (embopress.org)
  • The component of genetic variance ( V G ) due to the additive effects of alleles segregating in the population. (tripod.com)
  • Early calculations on statistical power indicated that this approach could be better than linkage studies at detecting weak genetic effects. (wikipedia.org)
  • alleles
  • Consequences of selection can include meiotic drive (unequal transmission of certain alleles), nonrandom mating and genetic hitchhiking. (wikipedia.org)
  • linkage
  • Around the year 2000, prior to the introduction of GWA studies, the primary method of investigation was through inheritance studies of genetic linkage in families. (wikipedia.org)
  • A suggested alternative to linkage studies was the genetic association study. (wikipedia.org)
  • environmental factors
  • Both genetic and environmental factors are involved in the development of bipolar disorder, a severe mood disorder characterised by oscillations from normal mood to periods of elevated mood (mania) or low mood (depression). (edu.au)
  • individual
  • Therefore, public expectations are now greater than ever that quickly, patients will carry cards with microchips encrypted with their individual genetic data that will allow delivery of highly individualized prescriptions. (gpr120inhibitor.com)
  • data
  • ACCE project ( a nalytic validity, c linical validity, c linical utility, associated- E LSI): A CDC sponsored project for evaluating data on emerging genetic tests. (tripod.com)
  • The archaeological and genetic data suggest that long-term bidirectional gene flow between wild and domestic stocks - including donkeys, horses, New and Old World camelids, goats, sheep, and pigs - was common. (wikipedia.org)
  • rare
  • R to handle large-scale information sets and rare variants, which is why we expect these procedures to even achieve in popularity.FundingThis work was supported by the German Federal Ministry of Education and Investigation journal.pone.0158910 for IRK (BMBF, grant # 01ZX1313J). (gpr120inhibitor.com)
  • Expectations of customized medicine have already been fu.R to take care of large-scale information sets and rare variants, that is why we anticipate these approaches to even acquire in popularity.FundingThis function was supported by the German Federal Ministry of Education and Investigation journal.pone.0158910 for IRK (BMBF, grant # 01ZX1313J). (gpr120inhibitor.com)
  • disease
  • Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites. (snpedia.com)
  • disorder
  • Genetic research into bipolar disorder traditionally uses strict categorical criteria to define a clinical diagnosis. (edu.au)
  • Dr Jan Fullerton and Professor Peter Schofield are investigating the genetic contributors to bipolar disorder using Australian families with multiple individuals who have been diagnosed with the disorder. (edu.au)