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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
  • [ July 10, 2018 ] Biodesix Buy Provides Commercial Path Forward for Indi XL2 Lung Nodule Test cancer
Home2016July

Month: July 2016

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[Next generation sequencing for the diagnostics and epidemiology of tuberculosis].

July 31, 2016 admin 0

Tuberculosis (TB) has overtaken HIV (human immunodeficiency virus) and malaria as the leading cause of death by an infectious disease worldwide. The reduction in the TB incidence is a modest 2% of cases per year, […]

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Genomic approaches to diagnose rare bone disorders.

July 31, 2016 admin 0

Skeletal dysplasias are Mendelian disorders with a prevalence of approximatively 1 in every 5000 newborns and can usually be diagnosed based on clinical and radiological findings. However, given that some diseases can be caused by […]

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Molecular approaches to trematode systematics: 'best practice' and implications for future study.

July 30, 2016 admin 0

To date, morphological analysis has been the cornerstone to trematode systematics. However, since the late-1980s we have seen an increased integration of genetic data to overcome problems encountered when morphological data are considered in isolation. […]

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Next-Generation Sequencing and Immunotherapy Biomarkers: A Medical Oncology Perspective.

July 30, 2016 admin 0

The two most important scientific developments of the past decade regarding therapies for patients with non-small cell lung cancer are the ability to exploit particular genetic mutations with targeted therapies and the discovery of drugs […]

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Bridging the Gap: Towards a Cell-Type Specific Understanding of Neural Circuits Underlying Fear Behaviors.

July 30, 2016 admin 0

Fear and anxiety-related disorders are remarkably common and debilitating, and are often characterized by dysregulated fear responses. Rodent models of fear learning and memory have taken great strides towards elucidating the specific neuronal circuitries underlying […]

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Health Care Infrastructure for Financially Sustainable Clinical Genomics.

July 30, 2016 admin 0

Next-generation sequencing has evolved technically and economically into the method of choice for interrogating the genome in cancer and inherited disorders. The introduction of procedural code sets for whole-exome and genome sequencing is a milestone […]

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Molecular digital pathology: progress and potential of exchanging molecular data.

July 30, 2016 admin 0

Many of the demands to perform next generation sequencing (NGS) in the clinical laboratory can be resolved using the principles of telepathology. Molecular telepathology can allow facilities to outsource all or a portion of their […]

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Molecular Testing in Breast Cancer: A Guide to Current Practices.

July 30, 2016 admin 0

CONTEXT: -Molecular diagnostics play a role in the management of many cancers, including breast cancer. OBJECTIVE: -To provide an update on molecular testing in current clinical practice, targeted at practicing pathologists who are not breast […]

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Congenital myasthenic syndromes: recent advances.

July 30, 2016 admin 0

PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission. This review updates the reader on recent […]

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Transcriptome-wide measurement of plant RNA secondary structure.

July 29, 2016 admin 0

RNAs fold into intricate and precise secondary structures. These structural patterns regulate multiple steps of the RNA lifecycle, while also conferring catalytic and scaffolding functions to certain transcripts. Therefore, a full understanding of RNA posttranscriptional […]

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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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