Variant effect
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The methanol extracts as well as some compounds from this plant exhibited anti-inflammatory, antimicrobial activity, antioxidant, hepatoprotective and anti-cancer effect, and antiosteoporotic. On going to search for bioactive components from the Vietnamese plant, this paper reported the isolation of seven phenolic compounds including one new from the aerial parts of A. ilicifolius. The cytotoxic activity of the isolates against two cancer cell lines (HepG2 and SK-LU1) were also screened and reported herein.
5p dianmotminh02 03-05-2024 6 1 Download
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This study also compares the predictive capability of these models to the model using average annual rainfall data that was widely used in previous studies. Finally, the best model fit is used for landslide spatial prediction mapping.
19p dianmotminh02 03-05-2024 4 2 Download
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Querying cancer genomes at single-cell resolution is expected to provide a powerful framework to understand in detail the dynamics of cancer evolution. However, given the high costs currently associated with single-cell sequencing, together with the inevitable technical noise arising from single-cell genome amplification, cost-effective strategies that maximize the quality of single-cell data are critically needed.
11p vibransone 28-03-2024 2 1 Download
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Alzheimer’s disease (AD) is characterized by neuronal loss and astrocytosis in the cerebral cortex. However, the specific effects that pathological mutations and coding variants associated with AD have on the cellular composition of the brain are often ignored.
19p vibransone 28-03-2024 3 2 Download
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Abnormal pre-mRNA splicing regulation is common in cancer, but the effects of chemotherapy on this process remain unclear. To evaluate the effect of chemotherapy on slicing regulation, we performed meta-analyses of previously published transcriptomic, proteomic, phosphoproteomic, and secretome datasets.
18p vibransone 28-03-2024 4 2 Download
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Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear. A comprehensive investigation of regulatory mechanisms and the gene regulatory networks between phenome-wide association study (PheWAS) and genomewide association study (GWAS) is needed to identify novel regulatory variants contributing to risk for human diseases.
15p vibransone 28-03-2024 3 2 Download
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Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk.
12p vibransone 28-03-2024 3 2 Download
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Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity.
11p vibransone 28-03-2024 2 2 Download
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For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta-synthase (CBS) gene, most of which are rare. With early detection, existing therapies are highly effective.
18p vibransone 28-03-2024 5 2 Download
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We present an assay to experimentally test the regulatory effects of genetic variants within transcripts using CRISPR/ Cas9 followed by targeted sequencing. We applied the assay to 32 premature stop-gained variants across the genome and in two Mendelian disease genes, 33 putative causal variants of eQTLs, and 62 control variants in HEK293T cells, replicating a subset of variants in HeLa cells.
10p vibransone 28-03-2024 7 2 Download
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In this study we generated a whole exome sequencing benchmark dataset using the platinum genome sample NA12878 and developed an intersect-then-combine (ITC) approach to increase the accuracy in calling single nucleotide variants (SNVs) and indels in tumour-normal pairs. We evaluated the effect of alignment, base quality recalibration, mutation caller and filtering on sensitivity and false positive rate.
11p vioraclene 31-03-2024 4 2 Download
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Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but are challenging to identify beyond those occurring at donor and acceptor dinucleotides.
12p vibransone 28-03-2024 3 2 Download
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Genome-wide association studies (GWASs) have identified thousands of variants associated with asthma and other complex diseases. However, the functional effects of most of these variants are unknown. Moreover, GWASs do not provide context-specific information on cell types or environmental factors that affect specific disease risks and outcomes.
22p vibransone 28-03-2024 6 2 Download
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PTEN is a multi-functional tumor suppressor protein regulating cell growth, immune signaling, neuronal function, and genome stability. Experimental characterization can help guide the clinical interpretation of the thousands of germline or somatic PTEN variants observed in patients.
17p vibransone 28-03-2024 1 1 Download
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Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interventions.
15p viellison 28-03-2024 4 2 Download
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While effective vaccines are being administered globally, there is still a great need for antiviral therapies as antigenically novel SARS-CoV-2 variants continue to emerge across the globe. Viruses require host factors at every step in their life cycle, representing a rich pool of candidate targets for antiviral drug design.
18p viellison 28-03-2024 1 1 Download
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Early identification of genetic risk factors for complex diseases can enable timely interventions and prevent serious outcomes, including mortality. While the genetics underlying many Mendelian diseases have been elucidated, it is harder to predict risk for complex diseases arising from the combined effects of many genetic variants with smaller individual effects on disease aetiology.
13p vicwell 29-02-2024 5 2 Download
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Common and rare variants contribute to the etiology of complex traits. However, the extent to which the phenotypic effects of common and rare variants involve shared molecular mediators remains poorly understood. The question is essential to the basic and translational goals of the science of genomics, with critical basic-science, methodological, and clinical consequences.
13p vicwell 29-02-2024 4 2 Download
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Dose-limiting toxicities significantly impact the benefits/risk profile of many drugs. Whole genome sequencing (WGS) in patients receiving drugs with dose-limiting toxicities can identify therapeutic hypotheses to prevent these toxicities. Chemotherapy-induced peripheral neuropathy (CIPN) is a common dose-limiting neurological toxicity of chemotherapies with no effective approach for prevention.
15p vicwell 29-02-2024 3 1 Download
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Ebook "Investigation of reactions involving pentacoordinate intermediates: The mechanism of the Wittig reaction" discovery of an effect common to representative examples of all Li salt-free Wittig Reactions. The implications of such a universally applicable effect are that all such Wittig reactions occur through the same mechanism. Although the Wittig reaction was first discovered in 1953, its reaction mechanism has never been definitively settled with many different variants proposed and disproved.
245p nhanphanguyet 28-01-2024 3 2 Download