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 .

Genome 52

Genome Genomics Genetics Genetic Disease 52

pharmaphorum

SEPTEMBER 9, 2020

Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. Luckily, we had a night vision camera in her room,” says Charlie. “If

Genome 103

Genome Genomics Genetics Genome Project 103

pharmaphorum

SEPTEMBER 9, 2020

Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. Luckily, we had a night vision camera in her room,” says Charlie. “If

Genome 80

Genome Genomics Genetics Genome Project 80