Research: comprises "creative and systematic work undertaken to increase the stock of knowledge, including knowledge of humans, culture and society, and the use of this stock of knowledge to devise new applications."
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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 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...
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...
Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
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...
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...
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...
Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
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...
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...
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...