A hybrid internship focused on clinical genome analysis. Interns apply strict medical guidelines to screen unknown mutations found in real-world rare disease and oncology screenings, evaluating their pathogenic severity.
Eligibility
M.Sc / M.Tech in Human Genetics, Medical Biotechnology, or Pharm.D students.
Familiarity with foundational genetic concepts like SNVs (Single Nucleotide Variants) and indels.
Strong scientific literature research skills.
Learning Outcomes
Proficiently apply ACMG/AMP (American College of Medical Genetics) guidelines to classify variants.
Navigate global biomedical population databases including ClinVar, gnomAD, and Cosmic.
Draft medical summary write-ups translating highly complex genetic variations into clear diagnostic recommendations.