It was once thought that the human genome would never be completely mapped out because it was much too complex. The human genome project found that, while complex, human genomes are not as complex as some very undistinguished creatures such as the roundworm and fruit fly.
Nevertheless the breakthrough was enormous and caused an incredible stir among scientists and researchers worldwide, opening doors to research about humans that had never before been seen.
At the center of the breakthrough was Complete Genomics, a California research facility that caused the stir when it announced in 2009 that it had sequenced its first human genome. When they had finished it they submitted the data to the National Center for Biotechnology Information and scientists the world over clamored to see it.
Today Complete Genomics is a full-service life-sciences company. The DNA sequencing platform that they developed is used by researchers around the globe to analyze and sequence human genomes using their proprietary and data management software and their informatics.
When a researcher anywhere in the world needs a genome to be sequenced they send it to Complete Genomics for analysis in Mountain View, California. After sequencing the assembled sequences and variant reports are published and sent back to the various researchers who order them.
The proprietary software that Complete Genomics uses is adjusted for the study of human DNA exclusively, and they can provide researchers with genome variation files and also assembled sequences.
Today there are various research papers that have been submitted using the results found at Complete Genomics. For example, their research was responsible for finding which gene was responsible for Miller Syndrome, a rare craniofacial disorder that had struck 1 member of a family of four.
It’s an amazing time to be alive, to be sure, and Complete Genomics is at the forefront of amazing changes that will soon be taking place that only years ago were hard to even imagine. Their technology will ultimately allow researchers to help find and, possibly, cure many diseases that afflict mankind.