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New approach to diagnosing genetic diseases using RNA sequencing increases yield

Scienmag

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.

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Genetic profiling of Lyme disease could bring new therapeutic targetsĀ 

Drug Discovery World

The findings, from the Icahn School of Medicine at Mount Sinai in New York and published in the journal Cell Reports Medicine , may also lead to new therapeutic targets. The study is the first to use transcriptomics as a blood test to measure RNA levels in patients with long-term Lyme disease. .

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The use-case for NGS

Drug Discovery World

DDW Editor Reece Armstrong speaks to Dr Darrell Green , Lecturer in RNA Biology Biomedical Research Centre Norwich Medical School University of East Anglia, about his work using next generation sequencing (NGS) and the areas the technology is impacting within drug discovery and development. The second concept is largely in oncology.

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The microbiome in precision medicine

Drug Discovery World

An industry overview of the role of the microbiome in precision medicine, and its interplay with research tools, diagnostics, and therapeutic development. But what advancements are taking place within microbiome-based precision medicine and how is it being used within oncology?

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New computational tool reliably differentiates between cancer and normal cells from single-cell RNA-sequencing data

Scienmag

CopyKAT enables researchers to gain new insights when analyzing solid tumor samples Credit: MD Anderson Cancer Center HOUSTON ā€” In an effort to address a major challenge when analyzing large single-cell RNA-sequencing datasets, researchers from The University of Texas MD Anderson Cancer Center have developed a new computational technique to accurately (..)

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Sensyne, Oxford University deploy AI to find asthma targets

pharmaphorum

The three-year project ā€“ led by respiratory medicine expert Dr Timothy Hinks from the Oxford University Respiratory Medicine Unit ā€“ will use whole-genome sequencing of around 500 patients with severe asthma, comparing their gene sequences with control subjects who don’t have asthma.

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U-M RNA scientists identify many genes involved in neuron development

Scienmag

Credit: Nigel Michki Neurons result from a highly complex and unique series of cell divisions. For example, in fruit flies, the process starts with stem cells that divide into mother cells (progenitor cells), that then divide into precursor cells that eventually become neurons.

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