Human research is scientific research conducted with human subjects in an effort to improve health. Human research can involve people directly, but it can also utilize specimens or data from people. Research can be aimed at developing a new drug or therapy or improving a diagnostic or therapeutic technique.
-
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...
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...
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...
The ENCODE and modENCODE consortia have generated a resource containing large amounts of transcriptomic data, extensive mapping of chromatin states, as well as the binding locations of >30...
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...
The human genome encodes ~21,500 proteins that are subject to reversible phosphorylation at nearly 1 million phosphosites by about 538 protein kinases and 156 protein phosphatases. Amongst ot...
Obesity is a disease. It was once not considered to be a disease and to be a matter of will power and gluttony. It was also the case that we once thought that fat tissue had no metabolic func...