Genetic diseases are disorders stemming from mutations in an individual's DNA sequence. These conditions can be a result of mutations in a single or multiple genes. An example of a genetic disease is cystic fibrosis: an inherited, progressive disease that affects the respiratory system.
With current NGS platforms, the boundaries of variant detection and gene content for genetic disease panels has been vastly expanded leading to increases in detection rates. However these pla...
I will present new insights into how multiomics profiling can be used to analyze and provide new insights into two complexes diseases, type 2 diabetes and autism....
I will discuss the use of genomic technologies - mostly ultrahigh-throughput DNA sequencing - to study normal human biology and to determine what goes wrong when we have disease. First I wil...
There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
Genome Wide Association Studies (GWAS) and eQTL analyses are producing huge numbers of associations and show no signs of slowing. There are now more than 8,500 SNPs associated with more than...
Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
Next-generation sequencing technology allows us to peer inside the cell in exquisite detail, revealing new insights into biology, evolution, and disease that would have been impossible to dis...
I will discuss recent statistical methods for identifying differentially expressed genes in static and time course bulk RNA-seq experiments. I will also provide an overview of the opportunit...
Every major scientific and technological revolution in history has been driven by one thing: access to data. Today, the availability of Big Data from a wide variety of sources is transforming...
A new affinity-based spin column procedure has been developed for highly specific isolation of exosomes and other extracellular vesicles (EVs) from serum or plasma, as well as for vesicular R...
Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selectio...
The implementation of Next Generation Sequencing (NGS) technology in the clinical laboratory has allowed for large-scale panel testing of many genes simultaneously at a reduced cost and turn-...
Please click here to watch this webinar On DemandsiRNA-mediated silencing of gene expression has revolutionized the study of biology by enabling rapid and unbiased loss-of-function studies to...
Date: Tuesday, April 7th, 2015Time: 8:30AM PST, 11:30AM EST, 5:30PM CETThe development of new medicines for Diabetes Type 2 complications has proven to be challenging due to the use of cell...
There is growing interest internationally in elucidating the clinical and biological profile of those at high genetic risk to bipolar disorder (BD) so as to enable the development of targeted...
Traditional psychiatric textbooks describe schizophrenia as a clinical enigma of unknown aetiology. However, this is no longer true. We now know a great deal about the risk factors, or contr...
Schizophrenia is a severe psychiatric disorder affecting 1% of the world’s population, leading to high human, social and economic burdens. Understanding how the interaction of gene and...
Contemporary serologic testing has revolutionized the field of celiac disease. Highly accurate serologic assays have shown the prevalence of celiac disease to be nearly 1:100 in many populat...
The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
Survival rates for early stage non-small cell lung cancer (NSCLC) remain unacceptably low compared to other common solid tumors. This mortality reflects a weakness in conventional staging, as...
Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
Obesity is associated with an aggressive subtype of breast cancer called basal-like breast cancer (BBC). Using C3(1)-TAg mice, a genetically engineered mouse model that resembles human BBC, w...
With current NGS platforms, the boundaries of variant detection and gene content for genetic disease panels has been vastly expanded leading to increases in detection rates. However these pla...
I will present new insights into how multiomics profiling can be used to analyze and provide new insights into two complexes diseases, type 2 diabetes and autism....
I will discuss the use of genomic technologies - mostly ultrahigh-throughput DNA sequencing - to study normal human biology and to determine what goes wrong when we have disease. First I wil...
There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
Genome Wide Association Studies (GWAS) and eQTL analyses are producing huge numbers of associations and show no signs of slowing. There are now more than 8,500 SNPs associated with more than...
Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
Next-generation sequencing technology allows us to peer inside the cell in exquisite detail, revealing new insights into biology, evolution, and disease that would have been impossible to dis...
I will discuss recent statistical methods for identifying differentially expressed genes in static and time course bulk RNA-seq experiments. I will also provide an overview of the opportunit...
Every major scientific and technological revolution in history has been driven by one thing: access to data. Today, the availability of Big Data from a wide variety of sources is transforming...
A new affinity-based spin column procedure has been developed for highly specific isolation of exosomes and other extracellular vesicles (EVs) from serum or plasma, as well as for vesicular R...
Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selectio...
The implementation of Next Generation Sequencing (NGS) technology in the clinical laboratory has allowed for large-scale panel testing of many genes simultaneously at a reduced cost and turn-...
Please click here to watch this webinar On DemandsiRNA-mediated silencing of gene expression has revolutionized the study of biology by enabling rapid and unbiased loss-of-function studies to...
Date: Tuesday, April 7th, 2015Time: 8:30AM PST, 11:30AM EST, 5:30PM CETThe development of new medicines for Diabetes Type 2 complications has proven to be challenging due to the use of cell...
There is growing interest internationally in elucidating the clinical and biological profile of those at high genetic risk to bipolar disorder (BD) so as to enable the development of targeted...
Traditional psychiatric textbooks describe schizophrenia as a clinical enigma of unknown aetiology. However, this is no longer true. We now know a great deal about the risk factors, or contr...
Schizophrenia is a severe psychiatric disorder affecting 1% of the world’s population, leading to high human, social and economic burdens. Understanding how the interaction of gene and...
Contemporary serologic testing has revolutionized the field of celiac disease. Highly accurate serologic assays have shown the prevalence of celiac disease to be nearly 1:100 in many populat...
The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
Survival rates for early stage non-small cell lung cancer (NSCLC) remain unacceptably low compared to other common solid tumors. This mortality reflects a weakness in conventional staging, as...
Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
Obesity is associated with an aggressive subtype of breast cancer called basal-like breast cancer (BBC). Using C3(1)-TAg mice, a genetically engineered mouse model that resembles human BBC, w...
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