There are hundreds of companies and institutes devoted to the study of the genetic code (genome), which are making tremendous strides in understanding the mechanisms of life (including individual people) at the most fundamental of levels. I’ve listed the ones that I can find at http://www.grouthbio.com – hopefully helping future biologists and computer scientists see what they might do as a genome scientist, young researchers find jobs, start-up companies find customers, collaborators and investors, and the rest of us learn what’s going on in this fascinating field, or at least find hope in our rapidly advancing understanding of cancer and other complex diseases.
Now I’m beginning profile them as I read what’s written on their websites and categorize them as to what they hope to do or provide. I’m starting with Ambry Genetics.
Ambry Genetics – http://www.ambrygen.com :
Ambry is a full-service genomics service provider, serving both the medical (as a CLIA-approved diagnostics laboratory) and research communities. Theirs is one of the most comprehensive services in the industry since they systematically research the available technologies and adopt them as needed to fill any holes in their capabilities. As they’ve been in business for over 13 years, they have tested, and at some point adopted, most of the major DNA sequencing and genotyping platforms. This makes them a comprehensive expert resource.
Currently, they use Illumina platforms quite a lot for whole genome sequencing (determining the sequence of all the nuclear DNA in an organism), whole exome sequencing (studying just the DNA that codes for genes), and multiplexed analyses of specific collections of genes. They complement their Illumina technologies with Fluidigm, Agilent, Ion torrent, Roche and other platforms as needed. Therefore they can look globally at an entire genome sequence, the exome (just that part of the genome that codes for the genes), a targeted list of genes, or develop assays for a specific mutation or set of mutations. They also have the capacity to look at how and when genes are expressed (or used) by an organism at a specific developmental stage or in response to a specific environmental stimulus.
Since these laboratory tests generate a vast amount of data, Ambry maintains a bioinformatics group using Ingenuity Systems’ platforms for biochemical pathway analysis and variant detection. They also use and develop specific algorithms to analyze the quality of their sequence data, and assist with determining which (of potentially many) mutations are worth a second look when a doctor and patient are on diagnostic odyssey to find cause, prognosis, and treatment of a rare or complex and poorly understood malady. Ambry also maintains genetic counseling resources for clinicians and their patients.
They have specific clinical resources for exome sequencing as well as test panels specific to certain types of cancer, Autism, cardiovascular diseases, Marfan syndrome and other disorders.
In short, Ambry endeavors to be a full-service expert resource for clinical genetic testing and counseling, as well as a research service to academic and industry labs which cannot maintain their own comprehensive genomics program.