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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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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . It also detected potential disease-causing variants in a further 3.9% Context . The study . of patients. .

Genome 52
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Top 10 Fastest Growing Biotech Companies in 2023

XTalks

These efforts encompass programs related to the shingles vaccine, Tdap vaccine and plague vaccine, reinforcing Dynavax’s commitment to advancing the field of vaccines and medicine. Furthermore, Fulgent has raised its full-year 2023 core revenue guidance to $260 million while simultaneously narrowing its financial losses.

Genetics 111