Navigation Links
Institute for Systems Biology uses Complete Genomics' genome sequencing service to verify gene responsible for Miller syndrome
Date:3/10/2010

MOUNTAIN VIEW, Calif. March 10, 2010 Complete Genomics Inc., a third-generation human genome sequencing company, today announced that the Institute for Systems Biology (ISB) employed Complete Genomics' human genome sequencing service to sequence a family quartet to determine the depth of genetic information possible in analyzing a full family's sequence, and to verify the gene responsible for Miller syndrome, a rare craniofacial disorder.Results from this collaboration will be published online later today in the journal Science; the manuscript is titled "Analysis of Genetic Inheritance in a Family Quartet by Whole Genome Sequencing."

"We are convinced that this new kind of analysis, family sequencing, will be a remarkably powerful scientific and medical tool in the future. ISB was delighted to work closely with the group at Complete Genomics to generate the data that enabled us to complete this study," said David Galas, Professor and Senior Vice President of ISB.

ISB used Complete Genomics' service to sequence the genomes of a four-member nuclear family in which the two children suffer from Miller syndrome and ciliary dyskinesia, a lung disorder similar to cystic fibrosis, but neither parent is affected. The goal of this study was to identify rare genetic variations that could be responsible for Miller syndrome, and to estimate the intergenerational mutation rate.

Complete Genomics sequenced the four genomes to a depth of 51x to 88x, and 85-92% of the bases in each genome were called. A comparative analysis of the four genomes yielded four genes consistent with recessive inheritance of rare variations. One of these genes, DHODH, was concurrently identified as a cause of Miller syndrome [Nat Genet. 2010 Jan;42(1):13-4]. Mutations in a second gene, DNAH5, have previously been shown to cause primary ciliary dyskinesia.

"When we established Complete Genomics, our goal was to provide large-scale complete human genome sequencing as a service that would enable our customers to make medically-relevant discoveries. We are delighted that ISB is already making breakthroughs of that caliber from its first study using our service," said Dr. Clifford Reid, chairman, president and CEO of Complete Genomics. "This is the type of positive disruptive influence that we want our technology to have on medical research."


'/>"/>

Contact: Lisa Osborne
lisao@waggeneredstrom.com
206-992-5245
Complete Genomics
Source:Eurekalert

Related biology technology :

1. Codexis Licenses New Drug Metabolite Profiling and Lead Diversification Technology From the California Institute of Technology
2. Southern Research Institute Licenses Anti-Cancer Drug Compound to Virium Pharmaceuticals
3. Midwest Research Institute Launches Center for Biological Safety and Security (CBS2)
4. New Scientists Boost Disease-based Research at Boston Biomedical Research Institute
5. Solazyme Selected for National Institute of Standards and Technology Award
6. HUYA Bioscience International Licenses Clinical Stage Anti-Arrhythmic Compound from the Shanghai Institute of Materia Medica
7. Caliper Life Sciences Awarded National Institute of Environmental Health Services Contract Valued to $7.0 Million
8. National Institutes of Health Awards $25.5M Contract to SRA
9. The USC Stevens Institute for Innovation Opens Shop on US Health Sciences Campus
10. Infectious Disease Research Institute Receives Grant for Acquisition of Core Research Equipment from M.J. Murdock Charitable Trust
11. The USC Stevens Institute for Innovation Opens Shop on USC Health Sciences Campus
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/20/2017)... (PRWEB) , ... February 20, ... ... leading US Joint Commission Accredited venture-backed teleradiology and telemedicine company announces at ... Healthineers. USARAD services are planned to be offered via a global cloud-based ...
(Date:2/20/2017)...  Atrius Health and IBM (NYSE: IBM ... to develop a cloud based service designed to ... view of the multiple influences on an individual,s ... be designed to support shared decision making between ... nonprofit healthcare organization with 875 physicians caring for ...
(Date:2/18/2017)... Research and Markets has announced the addition ... to their offering. ... The report provides separate comprehensive analytics for the US, ... of World. Annual estimates and forecasts are provided for the period ... these markets. Market data and analytics are derived from primary and ...
(Date:2/17/2017)... , Feb. 17, 2017  Protagonist Therapeutics, Inc. ... on its oral peptide drug candidates, PTG-100 and ... the European Crohn,s and Colitis Organization (ECCO).  The ... Barcelona, Spain from February 15 – ... preclinical data on Protagonist drug candidates PTG-100 and ...
Breaking Biology Technology:
(Date:2/2/2017)... 1, 2017  Central to its deep commitment ... worldwide, The Japan Prize Foundation today announced the ... pushed the envelope in their respective fields of ... scientists are being recognized with the 2017 Japan ... only contribute to the advancement of science and ...
(Date:1/31/2017)... 2017  Spero Therapeutics, LLC, a biopharmaceutical company ... of bacterial infections, today announced it has acquired ... Pro Bono Bio Ltd (PBB) to bolster its ... forms of Gram-negative bacteria.   The assets acquired have ... PBB group company. "The acquisition of ...
(Date:1/26/2017)...  Crossmatch, a leading provider of security and identity ... combatting fraud, waste and abuse in assistance operations around ... on Disaster Relief conference in Panama City ... and foreign assistance organizations throughout Latin America ... a largely unacknowledged problem in the foreign assistance and ...
Breaking Biology News(10 mins):