Electronic Journal of Medical Genetics

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  • [ 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
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Month: April 2016

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Connecting the droplets: a rare disease gene has a key role in chronic hepatitis C infection

April 28, 2016 admin 0

Hepatitis C virus (HCV) hijacks the host’s fat metabolism for its own survival, growth, and transport in the human body. A study published on April 28th in PLOS Pathogens identifies a host gene involved in […]

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From standard to new genome-based therapy of gastric cancer.

April 28, 2016 admin 0

Randomized trials and meta-analyses have established surgery, radiotherapy, chemotherapy and targeted therapy in the multidisciplinary treatment of gastric cancer. However, personalized prediction of both therapeutic resistance and recurrence or metastatic disease progression still remains a […]

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Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

April 28, 2016 admin 0

Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and screening. In the prenatal setting, this type of testing is often called noninvasive prenatal testing (NIPT). With a number of techniques, using either […]

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Why fraternal twins run in families

April 28, 2016 admin 0

If a woman’s female relatives have fraternal twins, she is more likely to give birth to twins herself, but the genes behind this phenomenon have remained a mystery. Now, researchers reporting April 28 in the […]

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Fungal spores could ‘hijack’ human immune cells to spread infection

April 28, 2016 admin 0

Scientists have announced a major breakthrough in their understanding of how the fungus Aspergillus terreus – the cause of serious illness in humans – can move around the body, rather than remaining in the lungs […]

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Genetic data uncovers multiple facets of schizophrenia

April 28, 2016 admin 0

Schizophrenia is not a single disease, say researchers who have uncovered four key genetic changes that explain four previously unknown conditions. Genetic discoveries are challenging the concept of a single definition for schizophrenia. The research, […]

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First small molecule targeted therapy to mitigate hearing loss in Usher syndrome type 3

April 28, 2016 admin 0

Usher syndrome (USH) is characterized by hearing loss or deafness at birth and progressive vision loss, and is the most common cause of inherited dual sensory deficit. No treatment is currently available to stop or […]

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Exercise genes? Study suggests certain people with depression may benefit from exercise

April 28, 2016 admin 0

Call it personalized medicine for depression — but the prescription in this case is exercise, which University of Florida Health researchers have found helps people with certain genetic traits. A UF study has found that […]

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Evolution of bacterial transcription factors: how proteins take on new tasks, but do not always stop doing the old ones.

April 27, 2016 admin 0

Many bacterial transcription factors do not behave as per the textbook operon model. We draw on whole genome work, as well as reported diversity across different bacteria, to argue that transcription factors may have evolved […]

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Chemists use DNA to build the world’s tiniest thermometer

April 27, 2016 admin 0

Researchers at University of Montreal have created a programmable DNA thermometer that is 20,000x smaller than a human hair. This scientific advance reported this week in the journal Nano Letters may significantly aid our understanding […]

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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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