Rare diseases affect an estimated 3.5–5.9% of the global population1. Patients dealing with these conditions not only face a direct impact on their health but also frequently encounter challenges in identifying the genetic origins of their disorder. This often leaves them with limited treatment options. However, the field of rare disease diagnosis has seen significant advances with the introduction of next-generation sequencing (NGS). Essential techniques like whole-exome sequencing...
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Current Advances and Future Directions in Rare Disease Diagnosis
Rare diseases affect an estimated 3.5–5.9% of the global population1. Patients dealing with these conditions not only face a direct impact on their health but also frequently encounter challenges in identifying the genetic origins of their disorder. This often leaves them with limited treatment options. However, the field of rare disease diagnosis has seen significant advances with the introduction of next-generation sequencing (NGS). Essential techniques like whole-exome sequencing... -
Webinar-Diagnosis of Rare Diseases using NGS Based Multi-gene Testing-Case studies
A disease is considered to be ‘rare’ when it affects one in about 2000 individuals in the population. This, individually are although rare,...Last edited by Strandlife; 03-19-2018, 01:29 AM.