Scienmag

OCTOBER 27, 2020

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.

Genetic Disease 69

Genetic Disease RNA Genetics Genome 69

Drug Discovery World

NOVEMBER 7, 2022

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

Genome Genomics Genetics Genetic Disease 52

Drug Discovery World

JUNE 5, 2024

Identifying genes linked with MND A key part of the MND Translational Challenge therapeutic strategy is to validate and de-risk MND targets using human genetic evidence. The proposed programme uses bioinformatics approaches and experimental models to validate and de-risk a portfolio of potential MND therapeutic targets.

Research 69

Research Bioinformatics Drugs Genetics 69

XTalks

DECEMBER 13, 2023

The company’s clinical diagnostic division provides a wide array of services, including molecular diagnostic testing, comprehensive genetic testing and high-quality anatomic pathology laboratory services. The company boasts an expansive portfolio of assets that grant rights to future potential royalty and milestone payments.

Genetics 111

Genetics Vaccination Vaccine DNA 111