Disease: is a disorder of structure or function in a human, animal, or plant, especially one that produces specific signs or symptoms that is not simply a direct result of physical injury.
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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...
Accurate and timely diagnosis of rejection and infection is essential for long-term survival of solid-organ transplant recipients. We evaluated the performance a novel test to monitor rejecti...
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...
Next-Generation Sequencing is enabling scientists to study the transcriptome in ways never before possible. During this session with Illumina Distinguished Scientist, Dr. Gary Schroth, you w...
With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...
Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defect...
Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
The Cas9 endonuclease from the microbial adaptive immune system CRISPR can be easily programmed to bind or cleave specific DNA sequence using a short RNA guide. Cas9 is enabling the generatio...