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Genetic variant
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.
MAY 30, 2014 | 7:30 AM
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...
MAR 20, 2014 | 1:00 PM
Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
OCT 17, 2013 | 3:00 PM
C.E. CREDITS
Although genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with cancer, the contribution to risk of these variants is small, rende...
OCT 17, 2013 | 12:00 PM
C.E. CREDITS
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
AUG 22, 2013 | 1:00 PM
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
AUG 22, 2013 | 12:00 PM
C.E. CREDITS
It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
AUG 22, 2013 | 10:00 AM
C.E. CREDITS
The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
AUG 22, 2013 | 7:00 AM
C.E. CREDITS
Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
AUG 21, 2013 | 12:00 PM
C.E. CREDITS
Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
AUG 21, 2013 | 8:00 AM
In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
AUG 21, 2013 | 8:00 AM
C.E. CREDITS
With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
AUG 21, 2013 | 7:00 AM
Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
AUG 21, 2013 | 6:00 AM
C.E. CREDITS
This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...
OCT 17, 2013 | 3:00 PM
C.E. CREDITS
Although genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with cancer, the contribution to risk of these variants is small, rende...
OCT 17, 2013 | 12:00 PM
C.E. CREDITS
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
AUG 22, 2013 | 1:00 PM
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
AUG 22, 2013 | 12:00 PM
C.E. CREDITS
It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
AUG 22, 2013 | 10:00 AM
C.E. CREDITS
The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
AUG 22, 2013 | 7:00 AM
C.E. CREDITS
Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
AUG 21, 2013 | 12:00 PM
C.E. CREDITS
Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...