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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
BackgroundThe American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation...
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Design of Oligonucleotides for Allele-Specific Amplification Based on PCR and Isothermal Techniques
Single-nucleotide variations have been associated to various genetic diseases, variations on drug efficiency, and differences in cancer prognostics....
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Detection of low-frequency mutations in clinical samples by increasing mutation abundance via the excision of wild-type sequences
The efficiency of DNA-enrichment techniques is often insufficient to detect mutations that occur at low frequencies. Here we report a DNA-excision...
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Artificial Intelligence-Based Counting Algorithm Enables Accurate and Detailed Analysis of the Broad Spectrum of Spot Morphologies Observed in Antigen-Specific B-Cell ELISPOT and FluoroSpot Assays
Antigen-specific B-cell ELISPOT and multicolor FluoroSpot assays, in which the membrane-bound antigen itself serves as the capture reagent for the...
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Concurrent inhibition of CDK2 adds to the anti-tumour activity of CDK4/6 inhibition in GIST
BackgroundAdvanced gastrointestinal stromal tumour (GIST) is characterised by genomic perturbations of key cell cycle regulators. Oncogenic...
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Applications of single-cell RNA sequencing in drug discovery and development
Single-cell technologies, particularly single-cell RNA sequencing (scRNA-seq) methods, together with associated computational tools and the growing...
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6-Color Crystal Digital PCRTM for the High-Plex Detection of EGFR Mutations in Non-Small Cell Lung Cancer
The profiling of EGFR mutations, the most common genetic alterations in non-small cell lung cancer (NSCLC) predictive of targeted therapy efficacy,...
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Highly Sensitive Detection of PIK3CA Mutations by Loo**-Out Probes-Based Melting Curve Analysis
PIK3CA mutations have important therapeutic and prognostic implications in various cancer types. However, highly sensitive detection of PIK3CA ...
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Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia
Pharmacogenomics (PGx) is a promising field of precision medicine where efficacy of drugs is maximized while side effects are minimized for...
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Limitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics
Cell-free DNA (cfDNA) in the circulating blood plasma of patients with cancer contains tumour-derived DNA sequences that can serve as biomarkers for...
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Evaluating the mutagenicity of N-nitrosodimethylamine in 2D and 3D HepaRG cell cultures using error-corrected next generation sequencing
Human liver-derived metabolically competent HepaRG cells have been successfully employed in both two-dimensional (2D) and 3D spheroid formats for...
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Prognostic potential of whole exome sequencing in the clinical management of metachronous colorectal cancer liver metastases
BackgroundColorectal cancer is a highly prevalent and deadly. The most common metastatic site is the liver. We performed a whole exome sequencing...
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Sequencing and characterizing short tandem repeats in the human genome
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human genome that are composed of repeated copies of a 1–6-bp motif. Over...
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Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer’s disease
Triggering receptor expressed on myeloid cells 2 (TREM2) plays a critical role in microglial activation, survival, and apoptosis, as well as in...
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Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism
Primary aldosteronism (PA) is the most common form of endocrine hypertension and is characterized by inappropriately elevated aldosterone production...
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A novel film spray containing curcumin inhibits SARS-CoV-2 and influenza virus infection and enhances mucosal immunity
BackgroundInfection by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) and influenza virus is still a major worldwide health concern....
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Functional consequences of allotypic polymorphisms in human immunoglobulin G subclasses
Heritable polymorphisms within the human IgG locus, collectively termed allotypes, have often been linked by statistical associations, but rarely...
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Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause polymerase proofreading-associated polyposis, a dominantly inherited...
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Development and Validation of Molecular Assays for Liquid Biopsy Applications
CTC analysis has already been shown to have an important impact on the prognosis, treatment selection, and monitoring of cancer patients. In this...
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Human leukocyte antigen alleles associate with COVID-19 vaccine immunogenicity and risk of breakthrough infection
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine immunogenicity varies between individuals, and immune responses correlate with...
