458 results found in Targeted Sequencing
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Publications
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population
The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the population. The coding sequence and splice site boundaries of all six genes were amplified in germline DNA from 2240 invasive EOC cases and 1535 controls. …
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Publications
Detection of cytomegalovirus drug resistance mutations by next-generation sequencing
Antiviral therapy for cytomegalovirus (CMV) plays an important role in the clinical management of solid organ and hematopoietic stem cell transplant recipients. …
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Publications
Analysis of circulating tumor DNA to monitor metastatic breast cancer
The management of metastatic breast cancer requires monitoring of the tumor burden to determine the response to treatment, and improved biomarkers are needed. Biomarkers such as cancer antigen 15-3 (CA 15-3) and circulating tumor cells have been widely studied. However, circulating cell-free DNA carrying tumor-specific alterations (circulating tumor DNA) has not been extensively investigated or compared with other circulating biomarkers in breast cancer. …
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Publications
Microfluidic amplification as a tool for massive parallel sequencing of familial hypercholesterolemia genes
Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. …
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Analysis of the ABCA4 gene by next-generation sequencing
To find all possible disease-associated variants in coding sequences of the ABCA4 gene in a large cohort of patients diagnosed with ABCA4-associated diseases. …
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Publications
Microfluidic PCR combined with pyrosequencing for identification of allelic variants with phenotypic associations among targeted Salmonella genes
A novel targeted massive parallel sequencing approach identified genetic variation in eight known or predicted fimbrial adhesins for 46 Salmonella strains. …
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Publications
Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation
Allele-specific DNA methylation (ASM) is well studied in imprinted domains, but this type of epigenetic asymmetry is actually found more commonly at non-imprinted loci, where the ASM is dictated not by parent-of-origin but instead by the local haplotype. …
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Publications
High throughput detection of clinically relevant mutations in archived tumor samples by multiplexed PCR and next-generation sequencing
Tailoring cancer treatment to tumor molecular characteristics promises to make personalized medicine a reality. …
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Publications
Allelic expression of deleterious protein-coding variants across human tissues
Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. …
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Publications
RNF43 is frequently mutated in colorectal and endometrial cancers
We report somatic mutations of RNF43 in over 18% of colorectal adenocarcinomas and endometrial carcinomas. …
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Publications
Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing
Clinical specimens undergoing diagnostic molecular pathology testing are fixed in formalin due to the necessity for detailed morphological assessment. …
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faq
What is the process for redesigning assays?
The primer pooling algorithm generates 20 primer pools that are designed for minimal interactions among primers and minimal nonspecific amplification. …
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faq
Do I need to update my software on Juno?
Yes, new software is required and available for download. …
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faq
Can I use my existing Access Array kit and assays on Juno with the Juno LP—192.24 IFC?
No, the LP—192.24 IFC was designed to work specifically with the Targeted DNA Seq Library Reagent Kit on Juno™. …
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faq
Can I use automation with the Targeted DNA Seq Library Reagent Kit?
Contact Fluidigm support at tech.support@fluidigm.com or fluidigm.com/contacts for guidance. …
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Publications
Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies
We tested and clinically validated a targeted next-generation sequencing (NGS) mutation panel using 80 formalin-fixed, paraffin-embedded (FFPE) tumor samples. …
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Publications
NOTCH1 Mutations Occur Early during Cutaneous Squamous Cell Carcinogenesis
Cutaneous SCC (cSCC) is the most frequently occuring skin cancer with metastatic potential and can manifest rapidly as a common side effect in patients receiving systemic kinase inhibitors. …
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Publications
Rare ATAD5 missense variants in breast and ovarian cancer patients
ATAD5/ELG1 is a protein crucially involved in replication and maintenance of genome stability. …
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Publications
Prevalence of DNA-confirmed familial hypercholesterolaemia in young patients with myocardial infarction
To report the prevalence of DNA-confirmed Familial Hypercholesterolaemia (FH) in young patients with acute myocardial infarction, the relative contribution of smoking and diabetes and to compare these rates with those in the general population. …
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faq
What information is provided in the Juno Targeted DNA Sequencing Library Prep Customer Informatics Packet?
A Microsoft® Excel® file that contains the primer sequences, genomic coordinates, GC content, multiplexed primer stock map of primer position in plates, and amplicon sequence and length. …