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Genomics
Genomics: an interdisciplinary field of science within the field of molecular biology. A genome is a complete set of DNA within a single cell of an organism, and as such, focuses on the structure, function, evolution, and mapping of genomes. Genomics aims at the collective characterization and quantification of genes, which direct the production of proteins with the assistance of enzymes and messenger molecules. Genomics also involves the sequencing and analysis of genomes.
AUG 21, 2014 | 9:45 AM
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...
AUG 21, 2014 | 9:30 AM
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...
AUG 21, 2014 | 8:45 AM
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...
AUG 21, 2014 | 8:45 AM
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...
AUG 21, 2014 | 6:45 AM
The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
AUG 20, 2014 | 2:15 PM
Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
AUG 20, 2014 | 11:45 AM
Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or or...
AUG 20, 2014 | 11:30 AM
High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of...
AUG 20, 2014 | 10:45 AM
A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
AUG 20, 2014 | 8:45 AM
In 2010, our team of synthetic biologists announced the creation of a bacterial cell that had a chemically synthesized genome. To build this synthetic Mycoplasma mycoides JCVI 1.0 we had to d...
AUG 20, 2014 | 8:45 AM
The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
AUG 20, 2014 | 8:30 AM
Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
AUG 20, 2014 | 8:00 AM
Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
AUG 20, 2014 | 8:00 AM
One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
AUG 20, 2014 | 7:30 AM
Next Generation Sequencing has revolutionized genomic variant discovery. The major bottle-neck for sequencing projects is the individual, biological sample, library preparation. This platfo...
