The completion of the human genome was just the beginning of the search to understand our own genetic underpinnings. Since that time, researchers, including those at the McDonnell Genome Institute, have continued to scrutinize the human genome in many ways — from describing the structure and function of our sex chromosomes (X,Y) to deciphering the immense variation present among human and mammalian populations.

In 2008, the McDonnell Genome Institute became the first to sequence the complete genome of a cancer patient — a woman with leukemia — and to trace her disease to its genetic roots. 

To better understand and help develop new treatments and therapies, the McDonnell Genome Institute is sequencing and analyzing genomes associated with diseases such as cancer that affect populations around the world. 

See below for a list of our collaborative genomics projects.

Improving Diagnostic Success in Patients within the Undiagnosed Disease Network with Comprehensive Structural Variation Discovery Using Multiple Technologies


The Undiagnosed Diseases Network (UDN) Clinical Site at Washington University School of Medicine (WUSM) evaluates patients with undiagnosed medical diseases who have been on prolonged diagnostic odysseys using careful clinical phenotyping and short read Illumina whole-genome sequencing (WGS) with structural variant (SV) detection using Manta.

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