
All aboard the RRS Sir David Attenborough
Science In Action
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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