On the origins of genetic variants [PDF]
FEBS Letters, 1991 Two contrasting mechanisms responsible for the creation of genetic variants are described: one is the manifestation of the limited accuracy of the cellular machinery for DNA replication, the other results from the ability of cells to repair damaged DNA.
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Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]
, 2014 Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler +24 more
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Dystrophin genetic variants and autism
Discover Mental Health, 2022 AbstractLoss-of-function variants in the dystrophin gene, a well-known cause of muscular dystrophies, have emerged as a mutational risk mechanism for autism spectrum disorder (ASD), which in turn is a highly prevalent (~ 1%) genetically heterogeneous neurodevelopmental disorder.
Maria Rita Passos-Bueno +2 more
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Genetic determinants of co-accessible chromatin regions in activated T cells across humans. [PDF]
, 2018 Over 90% of genetic variants associated with complex human traits map to non-coding regions, but little is understood about how they modulate gene regulation in health and disease.
A Barrie +99 more
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Genetic variants of SLC11A1 are associated with both autoimmune and infectious diseases: Systematic review and meta-analysis [PDF]
, 2015 © 2015 Macmillan Publishers Limited All rights reserved. A systematic review and meta-analyses were undertaken to investigate the association of SLC11A1 genetic variants with disease occurrence.
Archer, NS, Nassif, NT, O'Brien, BA
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Genetic susceptibility variants in parkinsonism [PDF]
Parkinsonism & Related Disorders, 2016 Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the degeneration of nigral neurons is consistent.
Owen A. Ross, Alexandra I. Soto-Ortolaza
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Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]
, 2011 Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
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Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]
, 2020 Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana +37 more
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Sample size requirements to detect the effect of a group of genetic variants in case-control studies
Emerging Themes in Epidemiology, 2008 Background Because common diseases are caused by complex interactions among many genetic variants along with environmental risk factors, very large sample sizes are usually needed to detect such effects in case-control studies. Nevertheless, many genetic
Khoury Muin J +2 more
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HUMAN GENETIC VARIANTS AND THEIR ANALYSIS: CURRENT STATE AND FUTURE PERSPECTIVES
Slovenska pediatrija, 2020 Human genetic variants occur throughout the whole genome, both in the coding and non-coding regions. In addition to defining genetic diversity among individuals, they may, in some instances, cause various genetic diseases, many of which have their onset ...
Lara Slavec +3 more
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