Follow a comprehensive curation of novel and significant discoveries in the fields of genetics and genomics by watching these webinars. Highlighted areas of interest in the fields of genetics and genomics include epigenetics, molecular genetics, hereditary disease, clinical genetics, population genetics, etc.
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...
There is increasing evidence that intracellular miRNAs play a role in the pathogenesis of many complex disease phenotypes. In addition, extracellular miRNAs in exosomes are emerging as...
In this webinar, we will discuss our most recent additions to our CRISPR protein portfolio, the GFP-SpCas9 and GFP-eCas9 fusion proteins. The two GFP-Cas9 fusion proteins offer great visualiz...
Loop-mediated isothermal amplification (LAMP) uses a stand-displacing DNA polymerase and four to six primers to rapidly amplify DNA at a single temperature. By eliminating temperature cyclin...
Single cell RNA sequencing (scRNA-seq) emerged to characterize gene expression differences between individual cells, allowing a higher resolution look at mRNA abundance than bulk RNA- seq. H...
Objective : Evaluation of EDTA-gel blood collection tubes from remote locations for NIPS (Non-invasive prenatal testing). Design: Paired comparisons Population: 61 pregnant women from Britis...
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...
Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
Cell line screening studies require highly efficient protocols for studying many samples in parallel. We have developed a lyse-and-go protocol for digital gene expression profiling of u...
The realization of the promise of personalized molecular medicine requires efficient development and implementation of novel targeted therapeutics linked to molecular markers able to identify...
Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
Characterizing cellular hierarchy has profound implications in development and diseases. Single-cell technologies have great potential in discovering new cell types and lineage relationships,...
Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
Modern biomedical research is being driven by large scale genetic and proteomic research to identify new targets for the study of disease mechanisms. While these techniques have been incredi...
The complete assembly of each human chromosome is essential for understanding human biology and evolution. Using complementary long-read sequencing technologies, we complete the first linear...
Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
Long read Structural Variation calling remains a challenging but highly accurate way to identify complex genomic alterations. To address this challenge, we developed Sniffles2, a successor t...
To provide insight on the utility and practicality of implementing a pharmacist-driven pharmacogenomics program in a community pharmacy or primary care setting and to provide a clinical updat...
According to the American Cancer Society, in there were an estimated 110,070 new cases diagnosed and approximately 32,120 deaths from gynecologic cancers in the U.S. in 2018. Of the five mos...
First discovered as a genome-editing tool just seven years ago, CRISPR systems have already changed the face of basic research, allowing researchers to alter the DNA of hundreds of organisms...
Understanding the order in which mutations accumulate during cancer progression could help us identify effective therapeutic targets. Yet, our insights are limited by the fact that we can on...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
The speakers will discuss how to surmount obstacles related to translating sequencing data into actionable results, and propose curated variant content shared with the clinical community as...
The introduction of PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%) at the individual single-molecule sequence read level, has allowed for adva...
Regardless of method, single cell RNA-seq only captures a small fraction of the transcriptome of each cell. Often, this is due to inherent limitations of the methodology as reads ‘drop...
Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...