Whole Genome Sequencing News and Research

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First whole genome sequence of Parsi breast cancer woman

Avesthagen Limited has yet again established its position as a leader in the successful application of next gen technologies as it announces the completion of the first Parsi breast cancer whole genome sequence of a 74-year-old Parsi woman with a heritable form of breast cancer. The incidence of breast cancer in most populations is strongly linked to a genetic basis but little is known about the variants at the present time.

4 Jan 2011

Study: Multitude of genes are linked to adult height

As much as 90 percent of variation in adult height may be caused by genetic inheritance, but a multitude of genes are involved. Most of these have yet to be discovered.

4 Jan 2011

Exome sequencing leads to correct diagnosis and life-saving treatment for mysterious genetic disorder

A genetic testing approach called exome sequencing—which provides a clinically practical alternative to whole-genome sequencing—led to correct diagnosis and life-saving treatment in a child with a previously unknown genetic disease, reports an upcoming paper in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

21 Dec 2010

Complete Genomics announces CNV and SV results as part of complete human genome sequencing service

Complete Genomics Inc. announced today that its customers will now receive copy number variation (CNV) and structural variation (SV) results as part of the CGA™ Service. This new enhancement includes additional types of variation data including quantitative, large-scale copy number measurements and larger inter- and intrachromosomal rearrangements.

10 Dec 2010

Haitian cholera pathogen closely related to 'El Tor O1' variant from South Asia

Scientists from Pacific Biosciences of California, Inc. and Harvard Medical School have successfully employed single molecule, real-time (SMRT™) DNA sequencing technology to rapidly characterize the pathogen responsible for the recent deadly cholera epidemic in Haiti. Published online Thursday in the New England Journal of Medicine, the results provide the first whole genome sequence analysis and most detailed genetic profile to date of the Haitian Vibrio cholerae outbreak strain.

10 Dec 2010

New discovery can develop diagnostic test to identify gene mutation in AML

Decoding the DNA of a woman who died of acute myeloid leukemia (AML) has led researchers at Washington University School of Medicine in St. Louis to a gene that they found to be commonly altered in many patients who died quickly of the disease.

11 Nov 2010

Life Technologies and BGI partner to offer whole human genome resequencing on SOLiD™ 4 System

Life Technologies Corporation and BGI (formerly Beijing Genomics Institute) announced today that they have partnered to offer whole human genome resequencing on the SOLiD™ 4 System. BGI, one of the world's largest genomic centers, has acquired 27 SOLiD 4 Systems, which will allow BGI to deliver 50 whole human genome sequences a month.

29 Oct 2010

NHGRI announces fund to develop third generation DNA sequencing technologies

More than $18 million in grants to spur the development of a third generation of DNA sequencing technologies was announced today by the National Human Genome Research Institute (NHGRI). The new technologies will sequence a person's DNA quickly and cost-effectively so it routinely can be used by biomedical researchers and health care workers to improve the prevention, diagnosis and treatment of human disease.

14 Sep 2010

GWAS finds new genetic link between Parkinson's disease and inflammation

A hunt throughout the human genome for variants associated with common, late-onset Parkinson's disease has revealed a new genetic link that implicates the immune system and offers new targets for drug development.

30 Aug 2010

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.

23 Aug 2010

BCM collaborates with Roche NimbleGen for high throughput exome capture technology

The Baylor College of Medicine Human Genome Sequencing Center has standardized its target enrichment human disease research studies on Roche NimbleGen Sequence Capture Exome technology. The Baylor HGSC will sequence over 5,000 exomes in the next two years to identify genetic variants underlying multiple human diseases and will employ NimbleGen SeqCap EZ Exome and customized NimbleGen exome designs as the exome capture technology of choice. More than 15 different diseases will be investigated by Baylor HGSC, including brain, liver, pancreatic, colon, ovarian and bladder cancers, heart disease, diabetes, autism, and other inherited diseases with the goal of better understanding causative mutations and their impact on these diseases.

4 Aug 2010

Researchers discover single genetic mutation that accounts for disease

By inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.

13 Jul 2010

BIDMC calls for new training program for personalized healthcare

The Department of Pathology at Beth Israel Deaconess Medical Center (BIDMC) have issued "A Call to Action" for the medical profession to catch up with the technology and business communities in the application of genomics to personalized health care.

2 Jul 2010

Roche, IBM announce agreement to develop nanopore-based sequencer for decoding human DNA

Roche and IBM announced today an agreement to develop a nanopore-based sequencer that will directly read and decode human DNA quickly and efficiently. Focused on advancing IBM's recently published "DNA Transistor" technology, the collaboration will take advantage of IBM's leadership in microelectronics, information technology and computational biology and Roche's expertise in medical diagnostics and genome sequencing.

1 Jul 2010

SeqWright, RainDance Technologies partner to offer RainStorm microdroplet-based PCR technology

SeqWright Inc., a world-wide leader in custom genomic and molecular biology services, announced today the expansion of its service portfolio by partnering with RainDance Technologies to offer the company's innovative RainStorm™ microdroplet-based PCR technology. SeqWright recognizes the growing demand from life science researchers for more efficient and cost-effective processes that allow for automated workflows providing greater confidence in results to meet the needs of large-scale resequencing studies.

30 Jun 2010

AMP raises ethical, laboratory practice concerns in whole genome sequencing at SACHGS meeting

Today, the Association for Molecular Pathology (AMP) presented public comments to the Secretary's Advisory Committee on Genetics, Health and Society (SACHGS) meeting focused on whole genome sequencing. In anticipation of advances in sequencing and its incorporation into clinical practice, AMP raised ethical and laboratory practice concerns for the Committee's consideration.

17 Jun 2010

ISB, GIND collaborate on whole-genome sequencing to identify drug targets for Huntington's Disease

The Institute for Systems Biology (ISB) of Seattle, WA, is collaborating with the Gladstone Institute of Neurological Disease (GIND) and its Taube-Koret Center for Huntington's Disease Research to use whole-genome sequencing to identify genes and novel drug targets related to the onset and progression of Huntington's disease (HD). The research team, led by GIND associate director and senior investigator Steven Finkbeiner, MD, PhD, will also use induced pluripotent stem (iPS) cells from patients with HD to screen for drugs that might delay, prevent, or even reverse this devastating condition.

16 Jun 2010

Life Technologies partners to create Genomic Cancer Care Alliance

Life Technologies Corporation today announced the creation of the Genomic Cancer Care Alliance to help people battling cancer gain access to treatment options found through analysis of their genomic information. Founding partners include Fox Chase Cancer Center, Scripps Genomic Medicine, and the Translational Genomics Research Institute (TGen). The announcement came during the Consumer Genetics Conference being held June 2-4 in Boston.

4 Jun 2010

New pricing of $19,500 set for Illumina's individual genome sequencing service

Illumina, Inc. today announced a new price of $19,500 for its individual genome sequencing service. In addition, the company announced a price of $14,500 per genome for groups of five or more participants using the same physician. Individuals with serious medical conditions for whom whole-genome sequencing could provide potential direct clinical value will be eligible for special pricing of $9,500 per genome.

From Illumina, Inc. 4 Jun 2010

Researchers use healthy person's complete genome sequence to predict risk for dozens of diseases

For the first time, researchers have used a healthy person's complete genome sequence to predict his risk for dozens of diseases and how he will respond to several common medications. The risk analysis, from the Stanford University School of Medicine, also incorporates more-traditional information such as a patient's age and gender and other clinical measurements.

30 Apr 2010