Phenotypic variations
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This study aimed to identify new pyroptosis-associated tumor antigens for use in mRNA vaccines and the screening of sensitive LUAD populations suitable for vaccination. The association between tumor immune infiltrating cell abundance and potential tumor antigens was investigated and visualized using the analysis modules of gene expression, clinical outcomes, and somatic copy number variation.
15p vishanshan 27-06-2024 2 1 Download
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Cancerous cells’ identity is determined via a mixture of multiple factors such as genomic variations, epigenetics, and the regulatory variations that are involved in transcription. The differences in transcriptome expression as well as abnormal structures in peptides determine phenotypical differences.
22p vishanshan 27-06-2024 2 1 Download
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Cancer susceptibility germline variants generally require somatic alteration of the remaining allele to drive oncogenesis and, in some cases, tumor mutational profiles. Whether combined germline and somatic bi-allelic alterations are universally required for germline variation to influence tumor mutational profile is unclear.
15p vibransone 28-03-2024 5 2 Download
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Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently emerged as routine clinical diagnostic tests. To date, few systematic analyses of mosaic variants detected by diagnostic exome sequencing for diverse clinical indications have been performed.
11p vibransone 28-03-2024 2 2 Download
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Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown.
15p vibransone 28-03-2024 5 2 Download
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Comprehensive molecular profiling has revealed somatic variations in cancer at genomic, epigenomic, transcriptomic, and proteomic levels. The accumulating data has shown clearly that molecular phenotypes of cancer are complex and influenced by a multitude of factors.
13p vibransone 28-03-2024 6 1 Download
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Genome-wide association studies are useful for discovering genotype–phenotype associations but are limited because they require large cohorts to identify a signal, which can be population-specific. Mapping genetic variation to genes improves power and allows the effects of both protein-coding variation as well as variation in expression to be combined into “gene level” effects.
9p vioraclene 31-03-2024 3 2 Download
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Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.
20p vioraclene 31-03-2024 4 2 Download
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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
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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
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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
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Human proteins are widely used as drug targets. Integration of large-scale protein-level genome-wide association studies (GWAS) and disease-related GWAS has thus connected genetic variation to disease mechanisms via protein. Previous proteome-by-phenome-wide Mendelian randomization (MR) studies have been mainly focused on plasma proteomes.
22p vicwell 29-02-2024 3 1 Download
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Ebook "Evolutionary biology: Biodiversification from genotype to phenotype" presents 20 selected contributions to the 18th Evolutionary Biology Meeting, which took place in September 2014 in Marseille. The aims of these annual meetings in Marseille are to bring together leading evolutionary biologists and other scientists who employ evolutionary biology concepts, e.g. for medical research, and to promote the exchange of ideas and encourage interdisciplinary collaborations.
406p manmanthanhla0201 26-02-2024 2 1 Download
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Part 1 book "Advances in breeding of dairy cattle" includes content: Genetic and phenotypic improvements in temperate dairy systems, assessing inbreeding and genetic diversity in the holstein breed using pedigree and genomic approaches, genetic diversity in dairy cattle - variation within and between breeds, the use of genomic information to improve selection response while controlling inbreeding in dairy cattle breeding programs.... and other contents.
315p oursky04 14-09-2023 5 3 Download
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Part 1 book "Aquaculture and fisheries biotechnology - Genetic approaches" includes content: History of biotechnology, genetics and selective breeding in aquaculture and fisheries; phenotypic variation and environmental effects basic genetics, qualitative traits and selection for qualitative traits; strain evaluation; domestication and strain selection; intraspecific crossbreeding; interspecific hybridization,.... and other contents.
247p oursky04 14-09-2023 5 3 Download
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Part 2 book "Bovine genomics" includes contents: Bovine genome architecture, bovine epigenetics and epigenomics, mapping quantitative trait loci, genome wide association studies and linkage disequilibrium in cattle, genomic selection in beef cattle, impact of high throughput genotyping and sequencing on the identification of genes and variants underlying phenotypic variation in domestic cattle.
149p oursky04 14-09-2023 9 3 Download
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Standard approaches for large scale phenotypic screens using electronic health record (EHR) data apply thresholds, such as 2 diagnosis codes, to define subjects as having a phenotype. However, the variation in the accuracy of diagnosis codes can impair the power of such screens.
7p visteverogers 24-06-2023 6 2 Download
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Vietnam journal of Agriculture and Rural development: Vol 2. No. 2 (2022): Design of CRISPR/Cas9 system for editing OsNRAMP7 involved in metal transport in TBR225 rice variety; Breeding thirteen mutant lines from DX208 Mungbean (Vigna radiata) with synchrony in pod maturity by DNA marker; Phenotypic variation and correlation of fruit traits in diverse muskmelon materials;...
104p viblackwidow 07-04-2023 5 3 Download
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This study applied principal component analysis and cluster analysis to investigate the primary and secondary relationships of the main agronomic traits affecting yield and quality and phenotypic diversity of 20 muskmelon materials in the Spring and Autumn season 2021 in Gia Lam, Ha Noi. The result of this study provided valuable information for muskmelon prebreeding in Vietnam.
9p viblackwidow 07-04-2023 6 2 Download
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Copy number variation (CNV) is an important source of genetic variability associated with phenotypic variation and disease susceptibility. Comprehensive genome-wide CNV maps provide valuable information for genetic and functional studies.
9p vinarcissa 21-03-2023 4 1 Download