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Exome Sequencing Becoming A Powerful New Diagnostic Tool For

Exome Sequencing Becoming A Powerful New Diagnostic Tool For Genetic Disorders

Chuck Bednar for redOrbit.com - Your Universe Online Scientists at the Baylor College of Medicine Medical Genetics Laboratories and the UCLA Clinical Genomics Center are at the forefront of a new technique that could be a powerful tool for...

Latest genomics Stories

2014-10-20 23:09:11

KromaTiD, Inc. is pleased to announce the launch of its directional Genomic Hybridization™ (dGH™) screening services at the American Society of Human Genomics in San Diego October 18-22. Fort Collins, CO (PRWEB) October 20, 2014 Based on a proprietary chromatid-specific imaging platform, dGH assays are the only imaging assays capable of determining DNA sequence, location and orientation data in a single test.  With these three dimensions of high-resolution data, dGH assays are...

2014-10-20 16:26:23

SAN DIEGO, Oct. 20, 2014 /PRNewswire/ -- Cypher Genomics, Inc., the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy. Cypher's co-founder and Chief Scientific Officer Ali Torkamani, Ph.D. reviewed the data today at a platform presentation at the ASHG 2014 meeting being held October 18 to 22 in San Diego. This study highlights how Cypher's Mantis(TM )technology, which...

2014-10-20 12:31:02

Over 250 Leaders Convene at 2nd Plenary Focused on Progress and Near-Term Impact BOSTON and CAMBRIDGE, Mass., Oct. 20, 2014 /PRNewswire/ -- The Global Alliance for Genomics and Health convened its second major meeting of 2014 on Saturday, bringing together more than 250 international leaders to collaborate on the development of innovative solutions to accelerate sharing of genomic and clinical data. At their plenary meeting, held in San Diego, California, Alliance members shared...

2014-10-20 12:29:51

IPSWICH, Mass., Oct. 20, 2014 /PRNewswire/ -- New England Biolabs (NEB(®)) and Directed Genomics together announce that they have established a partnership to develop a suite of new technologies for next generation sequencing (NGS), including target enrichment. http://photos.prnewswire.com/prnvar/20090921/NE79207LOGO-b Commenting on the announcement, James V. Ellard, CEO of NEB said, "Directed Genomics is an innovative technology development organization building simple,...

2014-10-20 08:33:08

23andMe Leadership Team Adds Veteran Genomics Marketing Professional MOUNTAIN VIEW, Calif., Oct. 20, 2014 /PRNewswire/ -- 23andMe, the leading personal genetics company, today announced the appointment of Ruby Gadelrab as vice president, commercial marketing. Gadelrab will oversee the global marketing efforts for the company's industry and academic collaborations. "Ruby brings an incredible depth of knowledge and experience to 23andMe through an impressive track record with some of...

2014-10-20 08:31:26

SAN DIEGO, Oct. 20, 2014 /PRNewswire/ -- BioNano Genomics announced today achievement of a major milestone for the Irys system: the ability to collect human data at 30X depth, sufficient for a genome map, in 24 hours on a single chip. This new capability was established and demonstrated for the IrysChip(TM) V2, the high-throughput chip for the Irys(TM )System and will be rolled out to BioNano's collaborators and customers over the next two months. BioNano will be showcasing this...

2014-10-19 12:21:20

Launches with rare disease researchers from major research institutions on four continents; Exchange to host the 10,000 exomes of the Simons Simplex Collection to speed autism research CAMBRIDGE, Mass., Oct. 19, 2014 /PRNewswire/ -- NextCODE Health, which enables clinicians and researchers to use full power of the whole genome in real time, today announced the launch of its new genomic data analysis and collaboration service, the NextCODE Exchange, at the American Society of Human Genetics...

2014-10-19 08:21:02

- Highly Scalable Analysis Solutions for Large Volumes of Whole Genome, Exome, and Targeted Resequencing Data - SAN MATEO, Calif., Oct. 19, 2014 /PRNewswire/ -- Maverix Biomics Inc., a leading genomic analysis software company, today announced the availability of Analysis Kits for analyzing variants in whole genome, exome, and targeted resequencing data produced by high throughput next generation sequencing systems. These new DNA sequencing Analysis Kits, along with initial...

2014-10-17 23:04:35

Assurex Health and CAMH have been awarded a $6 Million Grant from Genome Canada to study the benefits of genetic testing to guide mental health medication decisions; schizophrenia patients are included for the first time in a study of this type. Mason, OH (PRWEB) October 17, 2014 Assurex Health and Canada’s Centre for Addiction and Mental Health (CAMH) today announced they have received a $6 million grant from Genome Canada, an agency of the Canadian government, to study the benefits of...

2014-10-16 16:30:19

LONDON, Oct. 16, 2014 /PRNewswire/ -- This report analyzes the worldwide markets for Proteomics in US$ Million. The report provides separate comprehensive analytics for the US, Canada, Japan, Europe, Asia-Pacific, Latin America, and Rest of World. Annual estimates and forecasts are provided for the period 2013 through 2020. Also, a seven-year historic analysis is provided for these markets. Market data and analytics are derived from primary and secondary research. Company profiles are...


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