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. 

Collaborate with us

See below for a list of our collaborative genomics projects.

Center for Common Disease Genomics

CCDGCollaborative large-scale genome sequencing effort comprehensively identifying rare risk and protective variants that contribute to common disease phenotypes

CIViC: Clinical Interpretations of Variants in Cancer

An open access, open source, community-driven web resource with the goal of enabling cancer precision medicine

DGIdb: Drug Gene Interaction Database

User-friendly database with information on drug-gene interactions

GRC: Genome Reference Consortium

Improving the sequence quality and accuracy of the human reference genome

Human Genome Project

As part of this national effort to decode the human genome, the McDonnell Genome Institute contributed more than 20% of the draft sequence

Human Microbiome

The McDonnell Genome Institute helped to characterize the body’s microbial communities, or microbiome

Pediatric Cancer Genome Project

PCGPSt. Jude Children’s Research Hospital and MGI teamed up to decode the genomes of more than 600 childhood cancer patients

Reference Genome Improvement


The McDonnell Genome Institute is committed to enhancing and diversifying human reference genomes.

TCGA: The Cancer Genome Atlas


A comprehensive and coordinated effort to accelerate our understanding of the molecular basis of cancer

TOPMed: Trans-Omics for Precision Medicine

Understanding the genetics underlying heart, lung, blood and sleep disorders, including chronic obstructive pulmonary disease