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Multiplexed discrimination of SARS-CoV-2 variants via plasmonic-enhanced fluorescence in a portable and automated device
Portable assays for the rapid identification of lineages of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are needed to aid...
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Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification
CRISPR base editing screens enable analysis of disease-associated variants at scale; however, variable efficiency and precision confounds the...
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Small extrachromosomal circular DNA harboring targeted tumor suppressor gene mutations supports intratumor heterogeneity in mouse liver cancer induced by multiplexed CRISPR/Cas9
BackgroundPrimary liver cancer has significant intratumor genetic heterogeneity (IGH), which drives cancer evolution and prevents effective cancer...
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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
BackgroundReports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with...
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Lynch syndrome, molecular mechanisms and variant classification
Patients with the heritable cancer disease, Lynch syndrome, carry germline variants in the MLH1 , MSH2 , MSH6 and PMS2 genes, encoding the central...
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Multiplexed Genome Engineering with Cas12a
Genome engineering technologies based on CRISPR-Cas systems are fueling efforts to study genotype–phenotype relationships in a high-throughput and...
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Glucose-6-phosphate dehydrogenase mutations in malaria endemic area of Thailand by multiplexed high‐resolution melting curve analysis
BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy in humans, is prevalent in tropical and subtropical areas...
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Barcoding Technology for Multiplexed Analysis of Metastatic Ability In Vivo
DNA barcoding allows the quantitative, biomarker-free tracking of individual cell populations in mixed/heterogeneous cell pools. Here, we describe a...
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A paper-based assay for the colorimetric detection of SARS-CoV-2 variants at single-nucleotide resolution
The evolution of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has highlighted the need for versatile diagnostic assays that can...
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Enhancement of erythropoietic output by Cas9-mediated insertion of a natural variant in haematopoietic stem and progenitor cells
Some gene polymorphisms can lead to monogenic diseases, whereas other polymorphisms may confer beneficial traits. A well-characterized example is...
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Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation
Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects...
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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
BackgroundSingle-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications...
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Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers
BackgroundPTEN is a multi-functional tumor suppressor protein regulating cell growth, immune signaling, neuronal function, and genome stability....
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CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
BackgroundSplicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting...
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Quantifying Enzyme Activity and Gene Expression Within Single Cells Using a Multiplexed Capillary Electrophoresis Platform
To date, numerous chemical cytometry platforms have been developed to study a wide range of biologically relevant analytes in single cells by...
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High-throughput functional map** of variants in an arrhythmia gene, KCNE1, reveals novel biology
BackgroundKCNE1 encodes a 129-residue cardiac potassium channel ( I Ks ) subunit. KCNE1 variants are associated with long QT syndrome and atrial...
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A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism
PurposeTo develop a multiplexed assay for the newborn screening of lysosomal storage disorders and additional inborn errors in a flexible,...
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A multi-biomarker micronucleus assay using imaging flow cytometry
Genetic toxicity testing assesses the potential of compounds to cause DNA damage. There are many genetic toxicology screening assays designed to...
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Proteomic assay for rapid characterisation of Staphylococcus aureus antimicrobial resistance mechanisms directly from blood cultures
PurposeStaphylococcus aureus is one of the most common pathogens causing bloodstream infection. A rapid characterisation of resistance to...
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Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select
Determining the functional role of thousands of genetic sequence variants (mutations) associated with genetic diseases is a major challenge. Here we...
