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.
Feb 19, 2014
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(Medical Xpress)—The use of whole genome sequencing to identify different strains of bacteria which cause tuberculosis may unlock the door to improved treatments and more accurate clinical trials, according to a new international ...
Dec 6, 2013
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A team of Danish investigators has shown how to identify pathogens faster, directly from clinical samples. The research, published online ahead of print in the Journal of Clinical Microbiology appears in the journal's January ...
Dec 2, 2013
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Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve ...
Sep 16, 2013
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An international consortium, consisting of Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, has investigated the genetic variants in 32 families with ...
Jul 11, 2013
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Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies ...
Jun 27, 2013
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(Medical Xpress)—Using deep sequencing technologies, researchers from the Kingdom of Saudi Arabia, US, Canada and the UK have shown that the novel Middle East Respiratory Syndrome (MERS) coronavirus can spread between people ...
Jun 20, 2013
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(HealthDay)—Functionally impaired variants in the COQ2 gene, which encodes the enzyme parahydroxybenzoate-polyprenyl transferase, have been identified in multiplex families with multiple-system atrophy and in patients with ...
Jun 13, 2013
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(Medical Xpress)—The St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project has identified mutations responsible for more than half of a subtype of childhood brain tumor that takes ...
May 30, 2013
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(Medical Xpress)—A global team of researchers has identified the gene behind an Australian toddler's paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other children with ...
May 3, 2013
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