Electronic Journal of Medical Genetics

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  • [ July 11, 2018 ] Expert consensus guidelines for the genetic diagnosis of Alport syndrome. none
  • [ July 11, 2018 ] Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. none
  • [ July 11, 2018 ] New generation sequencing of targeted genes in the classical and the variant form of hairy cell leukemia highlights mutations in epigenetic regulation genes. none
  • [ July 11, 2018 ] Biocept Prices Subscription Rights to Purchase $25M of Securities cancer
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Home2015October

Month: October 2015

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Cleveland Clinic researchers discover new thyroid cancer gene

October 30, 2015 admin 0

Predisposing gene associated with Cowden syndrome.Cleveland Clinic researchers have discovered a new gene associated with Cowden syndrome, an inherited condition that carries high risks of…

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Stanford researchers identify potential security hole in genomic data sharing network

October 30, 2015 admin 0

Sharing genomic information among researchers is critical to the advance of biomedical research.

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Predicting the human genome using evolution

October 30, 2015 admin 0

To gain a clearer picture of health and disease, scientists have now provided an independent reference for all human variation by looking through the evolutionary lens of our nearest relatives.

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Splicing alterations that cause resistance to CD19 CAR T-cell therapy identified

October 30, 2015 admin 0

Bottom Line: Resistance to CD19 CAR T-cell therapy, a type of immunotherapy that yields long-lasting remissions in many patients with B-cell leukemia, can be caused by CD19 splicing alterations…

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Wistar scientists show how frequently mutated prostate cancer gene suppresses tumors

October 30, 2015 admin 0

These new findings may be able to help clinicians tailor treatments and could provide a new strategy for using targeted therapies in this diseaseThe gene SPOP is mutated in up to 15 percent of all…

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Morphologic and molecular backgrounds for personalized management of genito-urinary cancers: an overview.

October 29, 2015 admin 0

This contribution gives an overview of recent insights and emerging strategies for individualized therapeutic approaches based on genomic and cancer molecular profiles in patients with a morphological diagnosis of renal, bladder and prostate tumors. Significant […]

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Sites of retroviral DNA integration: From basic research to clinical applications.

October 29, 2015 admin 0

One of the most crucial steps in the life cycle of a retrovirus is the integration of the viral DNA (vDNA) copy of the RNA genome into the genome of an infected host cell. Integration […]

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Using experimental evolution to probe molecular mechanisms of protein function.

October 29, 2015 admin 0

Directed evolution is a powerful tool for engineering protein function. The process of directed evolution involves iterative rounds of sequence diversification followed by assaying activity of variants and selection. The range of sequence variants and […]

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Paget’s disease: Gene study pinpoints process that triggers painful bone disease

October 29, 2015 admin 0

Scientists have pinpointed the mechanism by which a key gene contributes to the development of a painful bone disease. Researchers have found that a fault in the gene can trigger the bone defects that affect […]

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Potential security hole in genomic data sharing network

October 29, 2015 admin 0

Sharing genomic information among researchers is critical to the advance of biomedical research. Yet genomic data contains identifiable information and, in the wrong hands, poses a risk to individual privacy. If someone had access to […]

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Recent Posts

  • Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
  • Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.
  • New generation sequencing of targeted genes in the classical and the variant form of hairy cell leukemia highlights mutations in epigenetic regulation genes.
  • Biocept Prices Subscription Rights to Purchase $25M of Securities
  • Biodesix Buy Provides Commercial Path Forward for Indi XL2 Lung Nodule Test

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