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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 Genetics Stories

2014-10-21 12:32:38

DUBLIN, Oct. 21, 2014 /PRNewswire/ -- Research and Markets has announced the addition of the "Global RNA Based Therapeutics Market (Technology, Application, End Users and Geography) - Size, Share, Global Trends, Company Profiles, Demand, Insights, Analysis, Research, Report, Opportunities, Segmentation and Forecast, 2013 - 2020" report to their offering. http://photos.prnewswire.com/prnvar/20130307/600769 A new report titled "RNA Therapeutics Market (technology, applications, end user and...

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 23:02:09

Former Vice President of Business Development at Illumina brings vision and expertise to BaseHealth as company expands into new commercial markets. Redwood City, CA (PRWEB) October 20, 2014 BaseHealth, the maker of the world’s first comprehensive health management platform, today announced Jorge Velarde as CEO and President. Before being named CEO and President, he served as Interim CEO and Senior Vice President of Business Development and Marketing at BaseHealth. Velarde joined the...

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 08:33:30

Technical data to be presented at the American Society for Human Genetics 2014 Annual Meeting FREMONT, Calif., Oct. 20, 2014 /PRNewswire/ -- WaferGen Bio-systems, Inc. (NASDAQ: WGBS) announced the launch of an automated solution for Agilent's SureSelect(XT) Target Enrichment workflow on the Apollo 324(TM) Next Generation Sequencing (NGS) sample preparation system. WaferGen responded to customers' unmet needs for a cost effective and flexible automated target capture solution. The...

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...

2014-10-16 08:31:49

- 99 Lives Cat Genome Sequencing Initiative Makes Discoveries Using Maverix Analytic Platform - SAN MATEO, Calif., Oct. 16, 2014 /PRNewswire/ -- Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis. The 99 Lives Cat Genome Sequencing Initiative is a joint project...


Latest Genetics Reference Libraries

GloFish
2013-10-03 10:12:03

The GloFish is a patented and trademarked brand of genetically modified fluorescent fish. Various GloFish are currently on the market. Zebrafish were the first GloFish that were available within pet stores and are now sold in bright green, red, orange-yellow, blue, and purple fluorescent colors. Recently, Electric Green, Sunburst Orange, and Moonrise Pink colored tetra (Gymnocorymbus ternetzi) and Electric Green tiger barb (Puntius tetrazona) have been incorporated to the lineup. Although not...

Knockout Mouse
2013-10-02 11:52:01

A Knockout Mouse is a genetically engineered mouse in which researchers have inactivated, or “knocked out,” an existing gene by replacing it or disrupting it with an artificial piece of DNA. The loss of gene activity frequently causes changes in a mouse’s phenotype, which includes appearance, behavior, or other apparent and biochemical characteristics. Knockout mice are significant animal models for studying the role of genes which have been sequenced but whose functions haven’t...

Blue Rose
2013-10-02 08:33:40

A Blue Rose is a flower of the genus Rosa belonging to the family Rosaceae that presents blue to violet pigmentation instead of the more common white, red, or yellow coloration. Blue roses are frequently portrayed in literature and art as a symbol of love and prosperity to those who seek it, but don’t exist in nature as a result of genetic limitations. In 2004, researchers utilized genetic modification to produce roses that contain the blue pigment delphinidin. After 13 years of...

Brief Introduction To DNA Probes
2014-01-12 00:00:00

DNA probes help scientists to detect a specific gene in a long DNA sequence. According to Dr. Michael A. Pfaller, DNA probes are “single-stranded pieces of nucleic acid, labeled with a specific tracer (isotope, enzyme, or chromophore), that will hydrogen bond (hybridize) with complementary single-stranded pieces of DNA (or RNA) under the appropriate conditions of pH, temperature, and iconic strength.” The Foundation for Genomics and Population Health website has a helpful video about...

Caenorhabditis elegans
2014-01-12 00:00:00

Caenorhabditis elegans is a species of parasitic roundworm in the Nematoda phylum. It can be found in temperate regions, in many different areas of the world. It prefers to reside in nutrient rich soils. Its scientific name is derived from the Greek terms Caeno, meaning recent, rhabditis, meaning rod-like, and the Latin term elegans, which means elegant. It was first named by Maupas in 1900, but was not classified in the Caenorhabditis subgenus until 1952 by Osche. Caenorhabditis elegans...

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Word of the Day
bellycheer
  • Good cheer; viands.
  • To revel; to feast.
The word 'bellycheer' may come from 'belle cheer', "good cheer".
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