Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.
DATE: April 15, 2020 TIME: 9:00am PT, 12:00pm ET We report a molecular assay, Methyl-HiC, that can simultaneously capture the chromosome conformation and DNA methylome in a cell. Methyl-HiC...
There has been an increasing number of successful gene therapy clinical trials, leading to regulatory approvals of numerous gene therapy products, in particular ones based on the adeno-assoc...
Scientists worldwide are actively working to tame the COVID-19 pandemic by developing therapies for patients with severe disease and a vaccine to stem transmission. Accomplishing these two g...
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)...
QIAGEN CLC Genomics Workbench is a powerful solution to analyze and visualize next generation sequencing (NGS) data. Powered by cutting-edge technology and accelerated algorithms, it support...
DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
Multiple factors can affect and impact infection dynamics and virulence produced by influenza virus (IV) infections. Susceptibility factors and host responses can also have major effects in d...
Metastatic castration resistant prostate cancer (mCRPC) refractory to secondary hormonal treatments such as enzalutamide or abiraterone acetate are the most lethal of prostate cancers. In thi...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Structural mutations have been clearly implicated in a number of cancers, most notably...
CRISPR/Cas9 technology has become very popular in the last 5 years and has profoundly changed our way to do genetically engineered animals. I will present the latest development in genome edi...
DATE: September 30, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Expression quantitative trait loci (eQTLs) are SNPs that have an influence on expression levels of genes, and the ident...
DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
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...
Tumor heterogeneity is a hallmark of cancer and can have significant impact on identifying drivers, including those that may be therapeutically relevant. Although, the traditional sequencing...
This talk will review successful efforts at Washington University to employ novel reagents and informatics to the problem of rare allele detection. I will discuss a published bakeoff of in si...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Inherited disorders affect millions of people globally. These diseases significantly impact lives of patients and their families, and in addition, also results in substantial socio-economic i...
Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type of highly accurate (HiFi), long insert reads. Increased read length and improve...
DATE: April 15, 2020 TIME: 9:00am PT, 12:00pm ET We report a molecular assay, Methyl-HiC, that can simultaneously capture the chromosome conformation and DNA methylome in a cell. Methyl-HiC...
There has been an increasing number of successful gene therapy clinical trials, leading to regulatory approvals of numerous gene therapy products, in particular ones based on the adeno-assoc...
Scientists worldwide are actively working to tame the COVID-19 pandemic by developing therapies for patients with severe disease and a vaccine to stem transmission. Accomplishing these two g...
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)...
QIAGEN CLC Genomics Workbench is a powerful solution to analyze and visualize next generation sequencing (NGS) data. Powered by cutting-edge technology and accelerated algorithms, it support...
DATE: November 12, 2019TIME: 10:00am PSTDirect measurement of copy number by droplet-based shallow sequencing of genomic DNA has the potential to provide new insights into tumor heterog...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
Multiple factors can affect and impact infection dynamics and virulence produced by influenza virus (IV) infections. Susceptibility factors and host responses can also have major effects in d...
Metastatic castration resistant prostate cancer (mCRPC) refractory to secondary hormonal treatments such as enzalutamide or abiraterone acetate are the most lethal of prostate cancers. In thi...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Structural mutations have been clearly implicated in a number of cancers, most notably...
CRISPR/Cas9 technology has become very popular in the last 5 years and has profoundly changed our way to do genetically engineered animals. I will present the latest development in genome edi...
DATE: September 30, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Expression quantitative trait loci (eQTLs) are SNPs that have an influence on expression levels of genes, and the ident...
DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
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...
Tumor heterogeneity is a hallmark of cancer and can have significant impact on identifying drivers, including those that may be therapeutically relevant. Although, the traditional sequencing...
This talk will review successful efforts at Washington University to employ novel reagents and informatics to the problem of rare allele detection. I will discuss a published bakeoff of in si...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Inherited disorders affect millions of people globally. These diseases significantly impact lives of patients and their families, and in addition, also results in substantial socio-economic i...
Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type of highly accurate (HiFi), long insert reads. Increased read length and improve...
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