Mutation enrichment
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Colibactin, a genotoxin produced by polyketide synthase harboring (pks+) bacteria, induces doublestrand breaks and chromosome aberrations. Consequently, enrichment of pks+Escherichia coli in colorectal cancer and polyposis suggests a possible carcinogenic effect in the large intestine.
7p vikoch 27-06-2024 1 1 Download
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Basal cell carcinoma (BCC) of the skin is the most common form of human cancer, with more than 90% of tumours presenting with clear genetic activation of the Hedgehog pathway. However, polygenic risk factors affecting mechanisms such as DNA repair and cell cycle checkpoints or which modulate the tumour microenvironment or host immune system play significant roles in determining whether genetic mutations culminate in BCC development.
12p vibransone 28-03-2024 3 2 Download
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Emerging evidence has proven the robust role of tumor mutation burden (TMB) and immune cell infltration (ICI) in cancer immunotherapy. However, the precise efect of TMB and ICI on clear cell renal cell carcinoma (ccRCC) remains elusive and merits further investigation.
14p vihagrid 30-01-2023 12 3 Download
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Sequencing errors are key confounding factors for detecting low-frequency genetic variants that are important for cancer molecular diagnosis, treatment, and surveillance using deep next-generation sequencing (NGS). However, there is a lack of comprehensive understanding of errors introduced at various steps of a conventional NGS workflow, such as sample handling, library preparation, PCR enrichment, and sequencing. In this study, we use current NGS technology to systematically investigate these questions.
15p vigalileogalilei 27-02-2022 14 2 Download
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The pathogenicity of many Mendelian variants has been challenged by large-scale sequencing efforts. However, many rare and benign “disease mutations” are difficult to analyze due to their rarity. The Saudi Arabian variome is enriched for homozygosity due to inbreeding, a key advantage that can be exploited for the critical examination of previously published variants.
7p vialfrednobel 29-01-2022 18 0 Download
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We develop the Oncogene Concatenated Enriched Amplicon Nanopore Sequencing (OCEANS) method, in which variants with low variant allele frequency (VAFs) are amplified and subsequently concatenated for Nanopore Sequencing.
17p viarchimedes 26-01-2022 9 0 Download
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Glioblastoma (GBM) has one of the worst 5-year survival rates of all cancers. While genomic studies of the disease have been performed, alterations in the non-coding regulatory regions of GBM have largely remained unexplored.
22p viarchimedes 26-01-2022 6 0 Download
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There is no unified treatment standard for patients with extranodal NK/T-cell lymphoma (ENKTL). Cancer neoantigens are the result of somatic mutations and cancer-specific. Increased number of somatic mutations are associated with anti-cancer effects.
12p vielonmusk 21-01-2022 11 0 Download
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Despite the introduction of targeted therapies, most patients with myeloid malignancies will not be cured and progress. Genomics is useful to elucidate the mutational landscape but remains limited in the prediction of therapeutic outcome and identification of targets for resistance.
15p vimahuateng 26-11-2021 13 1 Download
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Target enrichment is a critical component of targeted deep next-generation sequencing for the costeffective and sensitive detection of mutations, which is predominantly performed by either hybrid selection or PCR.
10p visilicon2711 20-08-2021 19 1 Download
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Single Nucleotide Variants (SNVs), including somatic point mutations and Single Nucleotide Polymorphisms (SNPs), in noncoding cis-regulatory elements (CREs) can affect gene regulation and lead to disease development.
5p vicoachella2711 27-10-2020 8 0 Download
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Analysis of somatic mutations from tumor whole exomes has fueled discovery of novel cancer driver genes. However, ~ 98% of the genome is noncoding and includes regulatory elements whose normal cellular functions can be disrupted by mutation.
8p vicolorado2711 22-10-2020 23 0 Download
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Tumor heterogeneity in breast cancer tumors is today widely recognized. Most of the available knowledge in genetic variation however, relates to the primary tumor while metastatic lesions are much less studied.
17p vibaku2711 22-07-2020 6 1 Download
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Glycogen storage disease type Ia (GSD Ia), a rare autosomal inherited disorder, is characterized by accumulation of excessive glycogen and fat in the liver. Primary symptoms of GSD Ia include hypoglycemia; metabolic acidosis; elevated levels of lactate, uric acid and lipids; hepatomagaly and growth retardation. Glycogen storage disease type Ia was caused by mutations in the G6PC gene. In this study, mutations in a Vietnamese patient with glycogen storage disease type Ia were analyzed using the whole exome sequencing method. A missense mutation c.356A>T (p.
8p xilank_of 22-07-2020 13 1 Download
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Mutation breeding is one of the best ways to induce genetic variability within a crop species in a short period of time. It is equally a potentially powerful tool for cluster bean as other crops for genetic enrichment. The gamma radiation induced 190 M4 mutant lines of cluster bean [Cyamopsis tetragonoloba (L.) Taub.] obtained from Centre for Biotechnological Research (CBR), Dept. of BCI, College of Horticulture, Bengaluru and which were used for the field experiment on spikelet sterility during kharif 2017 (June - November) at College of Horticulture, Mysore.
11p gaocaolon5 14-06-2020 8 2 Download
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Nitrogen dioxide (NO2) triggers hypersensitive response (HR)-like cell death in Arabidopsis thaliana. A high-throughput mutant screen was established to identify genes involved in this type of programmed cell death.
12p viharuno2711 21-04-2020 6 0 Download
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CRISPR/Cas9 is widely used for precise genetic editing in various organisms. CRISPR/Cas9 editing may in many plants be hampered by the presence of complex and high ploidy genomes and inefficient or poorly controlled delivery of the CRISPR/Cas9 components to gamete cells or cells with regenerative potential.
12p vihamax2711 21-04-2020 11 0 Download
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In maize, zeins are the main protein components of seed stores. It is the major determinants of nutritional imbalance when utilized as the sole food source. Zeins having four subfamilies (α, β, γ, and δ). Among these, α zeins are the major prolamin subunits in maize. Opaque-2 (o2) is a natural recessive mutation that is exploited for breeding varieties. However, it possessed some adverse pleiotropic effect so, the combination ofopaque-2 allele with its genetic modifiers composed to breed QPM genotypes that having a hard kernel with a high content of lysine and tryptophan.
10p nguaconbaynhay1 04-12-2019 18 0 Download
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The abundance of the doubly substituted CO2 isotopologue, 13C18O16O, in CO2 produced by phosphoric acid digestion of synthetic, inorganic calcite and natural, biogenic aragonite is proportional to the concentration of 13C–18O bonds in reactant carbonate, and the concentration of these bonds is a function of the temperature of carbonate growth. This proportionality can be described between 1 and 50 C by the function: D47 = 0.0592 Æ 106 Æ T2 0.
18p taisaocothedung 12-01-2013 47 1 Download