From 100 million to 21 hours, the breakdown of genetic testing "evolutionary history"

21 hours 47 minutes 12 seconds, this set of data is fixed for whole-genome sequencing of thousands of "Chinese speed."
April 20, from "BGI" number of public issued a message: "Genomics, Ali cloud and Anhui Medical University announced in Shenzhen, Hangzhou, Hefei, based on the new BGI developed gene yuan computing platform BGI Online, in 21 hours and 47 minutes and 12 seconds to complete a full analysis of human exons group of 1000 cases of the data. "
It is understood that the "1000 Genomes' project processed a total of 1,000 copies of human exons whole set of data, the total data capacity of 2TB. Analysis of the whole entire unattended, no command operation, only four mouse clicks to start the analysis of 11,000 multiple tasks, the success rate reached 100%.
Whole genome sequencing research market
From UW put global outlook, from the 2005 first-generation sequencing Roche gene sequences to produce 400MB-per-file 454, 2010 second-generation sequencing Illumina Hiseq 2000 to produce a single 200GB gene sequence files, the speed of gene sequencing in just five years, the upgrading of the 500 times.
Compared to the human genome slow speed of evolution, evolutionary related genome sequencing speed and capacity in this short span of 20 years has been "turned upside down."
In 1977, when the University of Cambridge F.Sanger, who invented the principle of the dideoxy chain termination method using DNA polymerase nucleotide sequence determination after researchers published the first whole genome sequencing of phage genomes PhiX174 ( full-length 5375 bp), then within a year to 1000 base pairs sequenced. At that time the researchers expected: if in accordance with conventional sequencing methods, is the Escherichia coli whole genome sequencing, need 1,000 years; if the human whole genome sequencing, you need to take 100 million years.
In 2001, scientists from six countries took 11 years to 30 billion US dollars, jointly issued the first set of human genes working draft. Two years later, the first human genome reference sequence published worldwide.
By 2006, the cost of whole genome sequencing dropped to $ 20 million; in 2007, the second generation sequencing technology was born and spent the whole genome sequencing closer reduced to $ 2 million, at fueled generation sequencing technology, 2008 years, the cost of whole genome sequencing to $ 200,000 in 2010 to below ten thousand dollars. That time, the time cost of whole genome sequencing has dropped from 11 years to once again several weeks.
"In fact, before 2008, due to the speed of the whole genome costly, time-consuming second-generation sequencing market, we often call it market research, which means that this technology is not available at the time the popularity and clinical use value. "Zhao Ruilin, general manager of Greater China Illumina" first Financial Daily "reporters.
Marching from market research to clinical
As the world's sequencing equipment, "originator", by Illumina sequencing equipment manufacturers the wave of genetic testing in recent years a meteoric rise, the stock price rose from $ 15.94 in 2001 to $ 140 when today, the peak period rose 24 times the market value of up to $ 20.5 billion.
For Illumina, the most notable in recent years was undoubtedly the Illumina HiSeq X10 sequencing system proud of them, for this system, the industry has a very vivid metaphor: like the automotive industry in one hundred thousand yuan car home, opened from blowout era sequencing market, it will cost whole genome sequencing of single drops below $ 1000.
"Birth X10 means that whole genome sequencing market truly entered the era of clinical, in fact, Illumina now hope to take this from a purely scientific instruments company's transformation into a clinical company." Zhao Ruilin representation.
Information from the public understood, HiSeq X Ten is a set of 10 ultra-high-throughput sequencing, designed for large-scale human genome sequencing build. At least 10 to purchase a machine from buy, price per HiSeq X exceeded $ 1 million. In 2014, a HiSeq X Ten in three days time, measured 180 individual whole genome, completed just recently privatized PharmaTech had acquired in 2014 through a X10 system, hoping to layout itself genetic testing business.
 "In the field of genetic testing is the next battleground for cancer and prenatal screening. In fact, as early as 2015, China has become the second largest after the United States sequencing market, many customers from private enterprises. "Zhao Ruilin representation.
In the front-end sequencing market, despite the current three generations of sequencing has not yet been developed in the country, but more companies have to look further to the more advanced fourth generation sequencing market.
Compared to the previous three generations of sequencing technology, the fourth generation sequencing technology is truly sequencing of single molecule detection and electron conductivity detector combination, completely out of the elution process, PCR amplification process. As the most promising $ 1,000 genome technology even $ 100 genome nanopore technology with ultra long read, high-throughput, less time and less complex sequencing data analysis, and from low to ultra-long reading high read length is detected from the optical to electronic conduction double crossing detection.
In June 2014, Roche 3.5 billion dollars to buy involving four generations of sequencing concept U.S. nanopore sequencing company Genia Technologies; the same in June, Roche joint venture jointly invested again US nanopore sequencing company Stratos Genomics1500 Wan dollars. Roche also co-developed with IBM solid state nanopore technology. The Illumina and Lifetech also focus on the development or investment nanopore sequencing technology.
Return home, 2015 Love the large gene had launched a global analysis of genomic data cloud platform service offerings BGI Online, Ali cloud and join hands together. It is understood that the main function of the positioning of the platform for next-generation sequencing to analyze vast amounts of data, storage and sharing. Ali cloud senior experts Meng CLC, BGI Online platform for hybrid cloud deployment model by Ali cloud providers can solve Mandarin internal customers high-speed low-latency data transmission needs, and makes data storage BGI, analysis and calculation can be more low cost .
"Our goal is to use proprietary sequencing and cloud analytics platform to complete a person within 24 hours from whole genome sequencing analysis to interpret the whole process. Though faced with no small challenge, but the value of life is worth worked. China is bound to make such efforts. "BGI Limited CEO Yin Ye said decades in the life sciences, biotechnology industry was strong driving force for sustainable growth in the future.