Exome Sequencing: is also known as whole exome sequencing (WES). It is a genomic technique for sequencing all of the protein-coding region of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.
In today’s rapidly evolving landscape of next-generation sequencing (NGS), researchers face mounting pressure to deliver high-quality data from increasingly diverse and challenging sam...
Glioblastoma (GBM) is an aggressive brain tumor characterized by marked intra- and inter-tumoral heterogeneity and inevitable recurrence. Although extracranial metastasis is rare, circulatin...
DNA fragmentation is a crucial first step in Next Generation Sequencing (NGS) workflows—from Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) to ChIP-seq and Minimal Resi...
The Genome Diagnostics lab of the Human Genetics Dept. at Radboud UMC provides rapid whole exome sequencing since 2017, with a max turnaround time of 15 days (from sample to report). With th...
NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants – especially when workflows include target enrichment, which foc...
Neoantigens are among the newest promising targets for cancer treatment. Unlike tumor-associated antigens, neoantigens are produced only by tumor cells. These unique molecular markers are hi...
The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining...
Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
Metastatic prostate cancer (mPC) is a phenotypically diverse disease with poor responses to immune based therapeutics. Development of immunotherapeutic strategies for mPC is hampered by the...
The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
Implementing precision genomic medicine in the pediatric acute care setting has several challenges. First, the diagnosis must be made quickly. Second, the determination of pathogenicity mus...
The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
The development of automated DNA sequencers utilizing Sanger sequencing and capillary electrophoresis made it possible to develop the first draft sequences of the human genome. The cost of do...
Clinical testing with next generation sequencing requires a complex bioinformatics pipeline to process raw DNA sequence into interpretable variants for medical reporting. With sequencin...
In today’s rapidly evolving landscape of next-generation sequencing (NGS), researchers face mounting pressure to deliver high-quality data from increasingly diverse and challenging sam...
Glioblastoma (GBM) is an aggressive brain tumor characterized by marked intra- and inter-tumoral heterogeneity and inevitable recurrence. Although extracranial metastasis is rare, circulatin...
DNA fragmentation is a crucial first step in Next Generation Sequencing (NGS) workflows—from Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) to ChIP-seq and Minimal Resi...
The Genome Diagnostics lab of the Human Genetics Dept. at Radboud UMC provides rapid whole exome sequencing since 2017, with a max turnaround time of 15 days (from sample to report). With th...
NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants – especially when workflows include target enrichment, which foc...
Neoantigens are among the newest promising targets for cancer treatment. Unlike tumor-associated antigens, neoantigens are produced only by tumor cells. These unique molecular markers are hi...
The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining...
Date: October 26, 2021 Time: 9:00am (PDT), 12:00pm (EDT) Capillary Electrophoresis plays an important role in the diagnosis of hemoglobinopathy carriers and patients. The general flow is the...
When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
Metastatic prostate cancer (mPC) is a phenotypically diverse disease with poor responses to immune based therapeutics. Development of immunotherapeutic strategies for mPC is hampered by the...
The development of molecular targeted therapy is one of the breakthroughs in oncology field. Molecular profiling of the tumor becomes mandatory in the routine clinical practice to select the...
Molecular profiling is key in precision oncology research and whilst the tissue testing has become a routine, liquid biopsy might provide a non-invasive alternative when tissue biopsy is ina...
My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
My laboratory at the Garvan Institute operates an ISO 15189 and NATA accredited laboratory for testing of patients using whole genome and whole exome sequencing, as well as gene panel testin...
The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
Implementing precision genomic medicine in the pediatric acute care setting has several challenges. First, the diagnosis must be made quickly. Second, the determination of pathogenicity mus...
The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
The development of automated DNA sequencers utilizing Sanger sequencing and capillary electrophoresis made it possible to develop the first draft sequences of the human genome. The cost of do...
Clinical testing with next generation sequencing requires a complex bioinformatics pipeline to process raw DNA sequence into interpretable variants for medical reporting. With sequencin...