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.
A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
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...
A number of recently publications have heralded the advent of Precision Medicine in Oncology, where next generation sequencing technology, other ’omics technologies, serial biopsies, so...
Appropriate dosing of pharmaceuticals is critical to prevent sub-therapeutic efficacy or the occurrence of adverse events. However, genetic variability may significantly influence an individu...
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...
Multidimensional molecular characterization has led to a tsunami of cancer data. Precision Medicine assumes that new understanding and better interventions will flow from this “Big Data...
Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...
DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
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...
Asthma is heritable, influenced by the environment, and is modified by in utero exposures and aging; all of these features are also common to epigenetic regulation. Furthermore, genetic varia...
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 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...
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...
Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
The TLA Technology constitutes a paradigm shift in targeted next generation sequencing (NGS). The TLA technology uses the physical proximity of nucleotides within a locus of interest as the b...
Patients with chromosomal rearrangements resulting in fusion proteins are among the most responsive to published targeted therapy. For example, targeting of the EML4-ALK fusion in non-small c...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and 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...
A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
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...
A number of recently publications have heralded the advent of Precision Medicine in Oncology, where next generation sequencing technology, other ’omics technologies, serial biopsies, so...
Appropriate dosing of pharmaceuticals is critical to prevent sub-therapeutic efficacy or the occurrence of adverse events. However, genetic variability may significantly influence an individu...
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...
Multidimensional molecular characterization has led to a tsunami of cancer data. Precision Medicine assumes that new understanding and better interventions will flow from this “Big Data...
Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...
DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
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...
Asthma is heritable, influenced by the environment, and is modified by in utero exposures and aging; all of these features are also common to epigenetic regulation. Furthermore, genetic varia...
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 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...
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...
Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
The TLA Technology constitutes a paradigm shift in targeted next generation sequencing (NGS). The TLA technology uses the physical proximity of nucleotides within a locus of interest as the b...
Patients with chromosomal rearrangements resulting in fusion proteins are among the most responsive to published targeted therapy. For example, targeting of the EML4-ALK fusion in non-small c...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and 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...
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