![](images/graphics/blank.gif)
Individual variations
-
Deleterious BRCA1/2 (BRCA) mutation raises the risk for BRCA mutation-related malignancies, including breast, ovarian, prostate, and pancreatic cancer. Germline variation of BRCA exhibits substantial ethnical diversity.
13p
vishanshan
27-06-2024
2
1
Download
-
This mixed method case study examined potential influences of social agents or immediate environments on individuals’ metacognition. Via quantitative methodologies, 122 pre-service teachers’ metacognition was measured by the Turkish Metacognitive Awareness Inventory, and metacognitive components did not show any variations across majors, locations of previous studies, the highest degree of education in the family, frequently communicated friends, and regions.
14p
viarnault
25-04-2024
4
2
Download
-
Humoral immune responses to infectious agents or vaccination vary substantially among individuals, and many of the factors responsible for this variability remain to be defined. Current evidence suggests that human genetic variation influences (i) serum immunoglobulin levels, (ii) seroconversion rates, and (iii) intensity of antigenspecific immune responses.
13p
vibransone
28-03-2024
4
2
Download
-
DNA methylation levels change along with age, but few studies have examined the variation in the rate of such changes between individuals. Methods: We performed a longitudinal analysis to quantify the variation in the rate of change of DNA methylation between individuals using whole blood DNA methylation array profiles collected at 2–4 time points (N = 2894) in 954 individuals (67–90 years).
11p
vibransone
28-03-2024
5
2
Download
-
Only a small fraction of patients respond to the drug prescribed to treat their disease, which means that most are at risk of unnecessary exposure to side effects through ineffective drugs. This inter-individual variation in drug response is driven by differences in gene interactions caused by each patient’s genetic background, environmental exposures, and the proportions of specific cell types involved in disease.
15p
vibransone
28-03-2024
4
2
Download
-
DNA methylation changes that accrue in the stem cell pool of an adult tissue in line with the cumulative number of cell divisions may contribute to the observed variation in cancer risk among tissues and individuals. Thus, the construction of epigenetic “mitotic” clocks that can measure the lifetime number of stem cell divisions is of paramount interest.
17p
vibransone
28-03-2024
3
2
Download
-
The concentrations of the highly atherogenic lipoprotein(a) [Lp(a)] are mainly genetically determined by the LPA gene locus. However, up to 70% of the coding sequence is located in the complex so-called kringle IV type 2 (KIV-2) copy number variation, a region hardly accessible by common genotyping and sequencing technologies.
13p
vibransone
28-03-2024
3
2
Download
-
This study conducted confidence interval estimation to assess variation in the fat content of hamburger samples from a restaurant, using Minitab. The standard for mean fat content was set at 15 grams as per accepted regulatory requirements, with a standard deviation of 1 gram. In this study twenty samples were selected at random and statistical process control was determined by the individual moving range (I-MR) test. The I-MR chart conducted on twenty individual hamburger samples showed that the fat content was in statistical process control.
9p
longtimenosee07
29-03-2024
2
1
Download
-
The translation of personal genomics to precision medicine depends on the accurate interpretation of the multitude of genetic variants observed for each individual. However, even when genetic variants are predicted to modify a protein, their functional implications may be unclear.
10p
vioraclene
31-03-2024
4
2
Download
-
The heat shock transcriptional response is essential to effective cellular function under stress. This is a highly heritable trait but the nature and extent of inter-individual variation in heat shock response remains unresolved.
13p
vioraclene
31-03-2024
2
2
Download
-
Here, we describe a novel approach for rapid discovery of a set of tumor-specific genomic structural variants (SVs), based on a combination of low coverage cancer genome sequencing using Oxford Nanopore with an SV calling and filtering pipeline. We applied the method to tumor samples of high-grade ovarian and prostate cancer patients and validated on average ten somatic SVs per patient with breakpoint-spanning PCR mini-amplicons.
14p
vibransone
28-03-2024
4
2
Download
-
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
The interleukin (IL)-1 pathway is primarily associated with innate immunological defense and plays a major role in the induction and regulation of inflammation. Both common and rare genetic variation in this pathway underlies various inflammation-mediated diseases, but the role of rare variants relative to common variants in immune response variability in healthy individuals remains unclear.
17p
vibransone
28-03-2024
3
2
Download
-
Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic and phenotypic spectrum of KIS has yet to be described and the precise mechanism of disease fully understood.
19p
viellison
28-03-2024
7
2
Download
-
Blood plasma proteins play an important role in immune defense against pathogens, including cytokine signaling, the complement system, and the acute-phase response. Recent large-scale studies have reported genetic (i.e., protein quantitative trait loci, pQTLs) and non-genetic factors, such as age and sex, as major determinants to inter-individual variability in immune response variation.
15p
viellison
28-03-2024
3
2
Download
-
The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p
viellison
28-03-2024
3
2
Download
-
There is large individual variation in both clinical presentation and progression between Parkinson’s disease patients. Generation of deeply and longitudinally phenotyped patient cohorts has enormous potential to identify disease subtypes for prognosis and therapeutic targeting.
15p
viellison
28-03-2024
3
2
Download
-
Asthma is the most common chronic disease in children, occurring at higher frequencies and with more severe disease in children with African ancestry. Previously unknown genetic variation at the 17q12-21 childhood-onset asthma locus contributes to asthma severity in individuals with African ancestries. We suggest that many other population-specific variants that have not been discovered in GWAS contribute to the genetic risk for asthma and other common diseases.
16p
viellison
28-03-2024
2
2
Download
-
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder remain unsolved after complete clinical evaluation.
18p
vicwell
29-02-2024
1
1
Download
-
Metabolic pathways are related to physiological functions and disease states and are influenced by genetic variation and environmental factors. Hispanics/Latino individuals have ancestry-derived genomic regions (local ancestry) from their recent admixture that have been less characterized for associations with metabolite abundance and disease risk.
13p
vicwell
29-02-2024
5
1
Download
-
Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show nucleotide sequence and functional region preferences. As a result, some sequence contexts mutate at much higher rates than others, with additional variation found between functional regions.
19p
vicwell
29-02-2024
2
1
Download
CHỦ ĐỀ BẠN MUỐN TÌM
![](images/graphics/blank.gif)