Rare cancers are characterized by the National Institute of Health as those malignancies which inflect less than 40,000 people annually in the United States. Combined, all rare cancers account for about 25% of all cancer diagnoses. Unfortunately, research and development of new therapies for rare cancers is challenging, resulting in slow progress for new therapeutic approaches. While rare cancers exist in many organs throughout the body, all childhood cancers are considered rare.
Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
Precision medicine requires understanding the mechanistic basis of complex disorders, and to precisely manipulate these mechanisms to better human health. This is partly enabled by the recent...
One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
Introduction and adoption of whole-genome sequencing has enabled new methods of investigation in the quest for answers in diagnostic odyssey cases as well as in the broader study of genetic d...
Detection of rare mutations is required for reliable identification of mutations in liquid biopsies and heterogeneous tumors. Yet low-level mutation detection remains a technically challengin...
A major goal of molecular diagnostics is to find a sensitive and specific means for detecting and quantifying DNA fragments from rare cancer cells (by virtue of an identifying somatic mutatio...
Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
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...
Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
In this webinar, our expert panel of speakers will introduce the new EnSight™ Multimode Plate Reader from PerkinElmer and demonstrate how the unique combination of well-imagin...
In this webinar, our expert panel of speakers will introduce the new EnSight™ Multimode Plate Reader from PerkinElmer and demonstrate how the unique combination of well-imaging with lab...
As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
Genome sequencing technologies have enabled a rapid expansion into understanding cancer biology, drug development, and treatment resistance. Research in our laboratory has focused on the app...
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
"SuperSelective" primers, by virtue of their unique design, enable only a few molecules of a mutant sequence to generate amplicons in conventional, real-time PCR assays without interference...
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
Massively parallel sequencing technology has proven to enable the identification of driver genetic alterations in patients' tumors that may be suppressed by targeted therapies. Through retros...
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
Precision medicine requires understanding the mechanistic basis of complex disorders, and to precisely manipulate these mechanisms to better human health. This is partly enabled by the recent...
One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
Introduction and adoption of whole-genome sequencing has enabled new methods of investigation in the quest for answers in diagnostic odyssey cases as well as in the broader study of genetic d...
Detection of rare mutations is required for reliable identification of mutations in liquid biopsies and heterogeneous tumors. Yet low-level mutation detection remains a technically challengin...
A major goal of molecular diagnostics is to find a sensitive and specific means for detecting and quantifying DNA fragments from rare cancer cells (by virtue of an identifying somatic mutatio...
Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
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...
Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
In this webinar, our expert panel of speakers will introduce the new EnSight™ Multimode Plate Reader from PerkinElmer and demonstrate how the unique combination of well-imagin...
In this webinar, our expert panel of speakers will introduce the new EnSight™ Multimode Plate Reader from PerkinElmer and demonstrate how the unique combination of well-imaging with lab...
As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
Genome sequencing technologies have enabled a rapid expansion into understanding cancer biology, drug development, and treatment resistance. Research in our laboratory has focused on the app...
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
"SuperSelective" primers, by virtue of their unique design, enable only a few molecules of a mutant sequence to generate amplicons in conventional, real-time PCR assays without interference...
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
Massively parallel sequencing technology has proven to enable the identification of driver genetic alterations in patients' tumors that may be suppressed by targeted therapies. Through retros...
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
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