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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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Sensyne, Oxford University deploy AI to find asthma targets

pharmaphorum

The three-year project – led by respiratory medicine expert Dr Timothy Hinks from the Oxford University Respiratory Medicine Unit – 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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PanOmics: Advancing drug discovery

Drug Discovery World

To enable Evotec’s precision medicine approach, we have been building technology platforms that allow PanOmics or multi-omics data generation at an industrialised scale. Using classical bulk (deep) RNA-Seq on thousands of human blood and tissue samples, Evotec has been building a high-quality molecular patient database – E.MPD.

Drugs 52
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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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Big data – charting a new path to drug discovery and development

Drug Discovery World

Now, with the growth of publicly available genomics, transcriptomics, and proteomics databases, the ability to quickly carry out large-scale DNA, RNA, and protein screenings, and the availability of massive sets of de-identified patient data, the amount of high-value, analysable data has reached enormous proportions.

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The Utility of Liquid Biopsy in Oncology Clinical Trials

XTalks

These tumor-derived entities are used to derive genomic and proteomic data. The leaders in this space now are Foundation Medicine and Guardant360, which have a large number of FDA-approved companion diagnostic assays for different indications,” said Dr. Bahassi. Optimal methods for bioinformatic analysis are still needed.

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Looking ahead to AACR  

Drug Discovery World

These topics will be represented across a range of session types, including methods workshops, minisymposia, poster and plenary sessions, as well as keynotes, awards and lectures.

Protein 52