4min chapter

Science In Action cover image

All aboard the RRS Sir David Attenborough

Science In Action

CHAPTER

Studying Patients' Genes and Diagnosing Diseases

This chapter discusses the process of studying patients' genes and diagnosing diseases. The speaker talks about enrolling 900 patients, sequencing their genes, and finding immediate diagnoses for half of them. They also mention the process of identifying novel gene variants and collaborating with international networks. The chapter emphasizes the importance of genetic variation and mutation in understanding diseases.

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