Navigation Links
Institute for Systems Biology uses Complete Genomics' genome sequencing service to verify gene responsible for Miller syndrome

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
Complete Genomics

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:
(Date:11/24/2015)... FRANCISCO , Nov. 24, 2015  Twist ... announced that Emily Leproust, Ph.D., Twist Bioscience chief ... Jaffray Healthcare Conference on December 1, 2015 at ... Hotel in New York City. --> ... . Twist Bioscience is on Twitter. ...
(Date:11/24/2015)... ... 24, 2015 , ... InSphero AG, the leading supplier of easy-to-use solutions for ... Aregger to serve as Chief Operating Officer. , Having joined InSphero in ... and was promoted to Head of InSphero Diagnostics in 2014. There she ...
(Date:11/24/2015)... , Nov. 24, 2015 /CNW Telbec/ - ProMetic Life Sciences ... today that Mr. Pierre Laurin , President and Chief ... at the upcoming Piper Jaffray 27 th Annual Healthcare ... on December 1-2, 2015. st , at ... one-on-one meetings throughout the day. The presentation will be available ...
(Date:11/24/2015)... , Nov. 24, 2015 HemoShear ... on discovering drugs for metabolic disorders, announced today ... to its Board of Directors (BOD). Mr. Watkins ... of Human Genome Sciences (HGS), and also served ... Jim Powers , Chairman and CEO ...
Breaking Biology Technology:
(Date:10/29/2015)... , Oct. 29, 2015 Daon, a ... that it has released a new version of its ... in North America have already ... v4.0 also includes a FIDO UAF certified server ... already preparing to activate FIDO features. These customers include ...
(Date:10/29/2015)... , October 29, 2015 ... authentication company focused on the growing mobile commerce ... announces that StackCommerce, a leading marketplace to discover ... the Wocket® smart wallet on StackSocial for this ... ("NXT-ID" or the "Company"), a biometric authentication company ...
(Date:10/27/2015)... October 27, 2015 Munich, ... Gaze Mapping technology (ASGM) automatically maps data from mobile ... Glasses , so that they can be quantitatively ... Munich, Germany , October 28-29, 2015. ... data from mobile eye tracking videos created with ...
Breaking Biology News(10 mins):