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New hope: Researchers discover genetic mutations that cause rare and deadly...

SALT LAKE CITY – A team of researchers, led by physicians and scientists at Intermountain Medical Center and ARUP Laboratories, has made a medical breakthrough by discovering genetic mutations that...

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Program Initiated to Offer Whole-Exome Sequencing to Rare Disease Patients...

from GenomeWeb NEW YORK (GenomeWeb News) – Patient advocacy groups Global Genes and Swan USA announced on Tuesday a program to provide whole-exome sequencing to patients with rare diseases who cannot...

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HTG Molecular Diagnostics Completes Initial Series E Preferred Stock Offering

TUCSON, AZ–(Marketwired – Feb 11, 2014) – HTG Molecular Diagnostics (“HTG”) today announced the initial closing of its Series E offering with existing investors Novo Ventures, SROne, Merck Capital...

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Enzymatics Launches Archer™ Targeted Sequencing Technology

Enzymatics Launches Archer™ Targeted Sequencing Technology to Dramatically Enhance Gene Mutation Identification and Discovery Identifies known and novel gene fusions without prior knowledge of...

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Clinical whole-exome sequencing: are we there yet?

Clinical laboratories began offering whole-exome sequencing in 2011 at a cost between $4,500 and $9,000. Reported detection rates for deleterious mutations range from 25 to 50%. Based on the experience...

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Bio-Hackers Pore Through A Child’s DNA For The Source of A Mysterious Disease

from techcrunch.com When Max Good was born, it was clear that something was off. At first, he was a colicky baby. But then he wouldn’t make eye contact, revealing that he was almost 100 percent blind...

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Pair of Exome Sequencing Studies of Similar Syndrome Converge on Variants in...

from GenomeWeb by a staff reporter NEW YORK (GenomeWeb News) – A pair of exome sequencing studies searching for the genetic basis of two similar pediatric syndromes homed in on an overlapping set of...

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Whole Genome Analysis: When Each Patient is a Big Data Problem

Although the time and cost of sequencing an entire human genome has plummeted, analyzing the resulting three billion base pairs of genetic information from a single genome can take many months. In the...

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WuXi PharmaTech Purchases an Illumina HiSeq X Ten Sequencing System

SAN DIEGO & SHANGHAI–(BUSINESS WIRE)–Mar. 10, 2014– Illumina, Inc. (NASDAQ:ILMN) and WuXi PharmaTech (Cayman) Inc. (NYSE:WX), a leading pharmaceutical, biotechnology, and medical device R&D...

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23andMe CEO: ‘We need to return to delivering health information’

from VentureBeat by Christina Farr AUSTIN, Texas – 23andMe‘s chief executive Anne Wojcicki kicks off her stilettos and sinks into a couch. Minutes into our interview, it’s clear that Wojcicki is...

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Agilent Technologies New Target-Enrichment Solutions Address Current...

SANTA CLARA, Calif.–(BUSINESS WIRE)–Agilent Technologies Inc. (NYSE: A) today announced new additions to its market-leading SureSelect target-enrichment product family, which has already enabled...

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Exome sequencing uncovers cause of acute liver failure in young children

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear...

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Personal Genome Diagnostics Collaborates on Study Uncovering New Actionable...

Personal Genome Diagnostics Collaborates on Study Uncovering New Actionable Mutations and Prognostic Predictors in Pancreatic Cancer Study in Nature Communications Identifies New Predictors of Patient...

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