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Latest Exome sequencing Stories

2014-07-22 08:32:31

-- New offering builds on platform's industry-leading accuracy and sensitivity -- CAMBRIDGE, Mass. and SHENZHEN, China, July 22, 2014 /PRNewswire/ -- BGI Tech Solutions Co., LTD, (BGI Tech), a subsidiary of BGI, the world's largest genomics organization, announced today the global launch of a new human whole exome sequencing service based on Complete Genomics' industry-leading platform. This newly offered service includes in-depth bioinformatics analysis and SNP validation, and is...

2014-07-02 12:20:39

The JAMA Network Journals Use of exome sequencing improved the ability to identify the underlying gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes (enzymes that are involved in basic energy production), according to a study in the July 2 issue of JAMA. Defects of the mitochondrial respiratory chain have emerged as the most common cause of childhood and adult neurometabolic disease, with an estimated prevalence of...

2014-06-10 08:30:04

--Study in Nature Genetics Used PGDx Exome Analysis to Identify Previously Unknown Mutation with Potential as New Drug Target for Lethal Childhood Brain Cancer-- BALTIMORE, June 10, 2014 /PRNewswire/ -- Personal Genome Diagnostics Inc. (PGDx), a provider of advanced cancer genome analysis and testing services, reported that its exome analysis services played a central role in several cancer studies recently published in leading scientific journals. PGDx's exome analysis...

2014-06-05 23:10:32

Part 3 in this Genomic Series will cover the requirements of the clinical use of Exomes and highlight levels of error and assumption of risk when multiple regions are reported. The live broadcast takes place on Wednesday, June 25, 2014 at 1pm EDT. Toronto, Canada (PRWEB) June 05, 2014 Exome Sequencing has become the leading tool for discovery-based research in pre-clinical settings for DNA aberrations. As such, it is important to understand how various molecular factors affect the...

2014-06-03 11:12:46

European Society of Human Genetics With services based on exome sequencing becoming affordable to patients at a reasonable price, the question of the quality of the results provided has become increasingly important. The exome is the DNA sequence of genes that are translated into protein. These protein-coding regions contain most of the currently-known disease-causing genetic mutations. The American College of Medical Genetics and Genomics (ACMG) has recommended the reporting to patients...

2014-04-30 09:46:46

In research published today in Molecular Psychiatry, a multinational team of scientists presents new evidence supporting the theory that in at least some cases of schizophrenia, autism and intellectual disability (ID), malfunctions in some of the same genes are contributing to pathology. The team, the product of an ongoing collaboration between Professors W. Richard McCombie of Cold Spring Harbor Laboratory (CSHL) and Aiden Corvin of Trinity College, Dublin, studied a type of gene...

2014-03-19 23:04:19

Clinical utility of whole exome sequencing in the identification of genetic changes in rare genetic disorders will be the focus. Lansdale, PA (PRWEB) March 19, 2014 Hayes, Inc., a leader in promoting better health outcomes through the use of evidence, is pleased to announce that Dr. Diane Allingham-Hawkins, Director of the Genetic Test Evaluation (GTE) Program at Hayes, Inc., will be presenting a poster presentation at the 2014 American College of Medical Genetics and Genomics (ACMG)...

2014-03-06 23:30:47

Eurofins MWG Operon announces debut of online ordering for this high power technology. Huntsville, AL (PRWEB) March 06, 2014 Eurofins MWG Operon, early pioneer and key provider of next generation sequencing services (NGS) has launched a full-service online NGS ordering platform enabling customers twenty-four hour access to high throughput sequencing. These services, powered by the industry’s most advanced platforms (Illumina HiSeq, Ion Proton, and more) are fully integrated in the...

Using Supercomputers To Speed Up Genome Analysis
2014-02-20 11:11:12

Lee Rannals for redOrbit.com - Your Universe Online Researchers writing in the journal Bioinformatics say that genome analysis can be radically accelerated. Over the years, the cost of sequencing an entire human genome has dropped, but analyzing three billion base pairs of genetic information from a single genome can take months. A team from the University of Chicago is reporting that one of the world’s fastest supercomputers is able to analyze 240 full genomes in about two days....

2014-02-12 16:26:13

DUBLIN, Feb. 12, 2014 /PRNewswire/ -- Research and Markets ( http://www.researchandmarkets.com/research/l54sxm/dna_sequencing ) has announced the addition of Jain PharmaBiotech's new report "DNA Sequencing - Technologies, Markets and Companies" to their offering. (Logo: http://photos.prnewswire.com/prnh/20130307/600769) This report briefly reviews basics of human genome variations, development of sequencing technologies, and their applications. Current large and small...


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