Integrative Analyses for Rare Genetic Disease Diagnostics

2 credits, Fall Semester

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 of various 'omics technologies (transcriptomics, long read sequences) 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 a foundational understanding and practical skills essential for carrying out 'N-of-1" 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.

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Aparna Nathan

Aparna Nathan

Lecturer in Biomedical Informatics
Associate Director, Master of Biomedical Informatics (MBI) Program


Shilpa Kobren, PhD

Associate Director of Rare Disease Analysis
Biomedical Informatics Research Training Fellow, 2018-2019

Zaklab (Kohane)