Integrative Analyses for Rare Genetic Disease Diagnostics
BMI 711
Subject & Catalog Number
Course Information
Description
An estimated 1 in 17 people worldwide are affected by a rare genetic disorder. Rare disease cases remain undiagnosed for several years on average, and most cases are never fully resolved or treated. This course provides a comprehensive exploration into the diagnostics of rare genetic diseases, starting with a review of the principles of disease genomics and covering the utility of various 'omics technologies (transcriptomics, long read sequencing) and phenotyping approaches with the ultimate goal of solving medical mystery cases. Students will delve into 'corner case' complexities of DNA structure, genetic variant types and inheritance patterns using computational analysis tools and gain foundational understanding and practical skills essential for carrying out case-based investigations of rare disease etiologies. A central focus of the course will be the opportunities and challenges associated with whole genome sequencing. Students will attend weekly classes that begin with lectures and are followed by interactive analyses and discussions. Prerequisites include a basic genetics background and familiarity with Python and the command line.
Class Notes
Prerequisites: Basic genetics background and familiarity with Python and the command line.
Non-HMS students can submit petitions for this course starting November 13, 2025. Cross-reg petitions will not be reviewed or approved before Friday, January 23, 2026.
Registration for HMS courses is not available until January. Students not in the Master of Medical Sciences in Biomedical Informatics program who wish to cross-register for this course must submit a my.harvard petition that summarizes their interest in the course and how they meet prerequisites. Cross-reg petitions will be reviewed on a first-come, first-served basis beginning January 23, 2026. Students should submit petitions before this date, but they will not be approved ahead of time.
For questions about BMI 711 cross-registration, please contact mbi@hms.harvard.edu with the subject line "BMI 711 cross-registration".
Available for Harvard Cross Registration
