Remove DNA Remove Genetic Disease Remove Genotype
article thumbnail

Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Giving participants something in return.

article thumbnail

Molecular Diagnostic Tests: The Unsung Hero of Precise Clinical Decision Making

Roots Analysis

Molecular diagnostic tests refer to tests intended to detect specific sequences in human genomic samples, such as DNA or RNA, in order to diagnose a particular disease. Further, such tests also aim to identify single nucleotide polymorphisms, deletions, rearrangements, and insertions in genetic sequences.