Our group in the Division of Genetics at Brigham & Women’s Hospital (BWH) and the Department of Medicine at Harvard Medical School aims to develop computational methods to expand our understanding of human genetic disorders.  Many severe human diseases are caused by changes in genomic sequences. These disorders are often complicated, requiring treatment by multiple specialized health care providers. In collaboration with colleagues throughout BWH, we have launched an integrated clinical and research program, Brigham Genomic Medicine (BGM). This program enables clinicians throughout BWH departments and divisions to solve Mendelian clinical cases in collaboration with researchers interested in gene discovery, via genomic sequencing.

We are leading the gene discovery arm of BGM, where we focus on cases in which a patient’s symptoms are not explainable by defects in their genes that already associated with specific disorders. We are developing computational methods and statistical tools for Mendelian variant calling and annotation. We are evaluating the functional effect of genetic variants and prioritizing variants at the gene-level by developing a framework for estimating gene-level and domain-level scores for BGM candidate genes based on their tolerance to sequence variation.

Striving with our extended BGM team to bring the benefits of genomic medicine to all.

BGM Meeting

Contact Us:

Joel B Krier, MD
Harvard New Research Building, room 168 | 77 Avenue Louis Pasteur, Boston, MA 02115 | T: 617-525-4704