All Science

Rare diseases collectively affect millions, yet diagnosis often remains slow and fragmented. Scalable whole-genome sequencing is reshaping clinical practice, enabling higher diagnostic yield, streamlined workflows, and sustainable genome-first strategies for hospitals and laboratories.

Germline and somatic mutations play distinct roles in disease, especially cancer. This article explores their molecular differences, impact on inheritance and progression, and how inherited predispositions and acquired mutations together influence tumor development and treatment strategies.

A detailed overview of how next-generation sequencing, MALBAC amplification, and AI-driven analytics are reshaping reproductive genetics, enabling precise PGT workflows, non-invasive testing, and improved IVF outcomes.

Discover how rapid whole genome sequencing, advanced bioinformatics, and expanding genetic services in Turkey are transforming diagnosis and care for rare and undiagnosed diseases, with insights from Intergen and MGI on DNA Today.