About the Talkowski Laboratory

The Talkowski Laboratory is interested in understanding the consequence of genomic variation on human disease. We study the genetic etiology of disorders affecting prenatal, neonatal, and early childhood development, particularly autism spectrum disorder (ASD) and related neurodevelopmental and psychiatric disorders. Our research program integrates a molecular genomics wet laboratory with a computational genomics group. The lab is composed of undergraduate and graduate students, post-baccalaureate researchers, postdoctoral fellows, and senior staff scientists performing human genomic research in four primary domains:


Our recent studies have described the landscape of cytogenetic abnormalities at sequence resolution and the striking complexity of cryptic structural variation in the human genome, which has led to discovery of new genes and genomic disorders contributing to human disease. We have developed a molecular and computational diagnostic sequencing application with our customized large-insert jumping libraries and are currently engaged in large-scale validation studies of whole-genome sequencing in routine prenatal diagnostic practice.  Through ongoing contributions to the 1,000 Genomes Project Structural Variation Consortium, the Genome in a Bottle Consortium, and our Prenatal Diagnostic Consortium, we are also pursuing efforts to reliably detect all classes of structural changes in the human genome through reference based sequence alignments and de novo assembly efforts using existing and emerging technologies.

Psychology News
Psych Central
Science Daily



Another major component of the laboratory is functional genomic studies to characterize disease-associated genetic lesions. We are performing extensive transcriptomic and epigenomic studies in induced pluripotent stem cells (iPSCs) and interrogating methods for genome editing such as CRISPR/Cas9.  We recently conducted extensive studies to evaluate on-target efficiency and off-target effects of CRISPR/Cas9 genome editing technology with our collaborators at the Harvard Stem Cell Core, revealing minimal off-target effects from whole-genome sequencing in one study, and suggesting viable translational opportunities to prevent HIV infection.

Boston Children’s Hospital
Harvard Stem Cell Institute

In addition to our genomics laboratory at MGH and the Broad Institute, Dr. Talkowski is the founding director of the Genomics and Technology Core of MGH, which seeks to develop new technologies and provide molecular and computational genomics capabilities to the local and external research community.  We also have a large network of collaborations within the MGH, Harvard, Broad Institute, and MIT communities, as well as external collaboration throughout the US and internationally.

We welcome inquiries from highly qualified scientists at all levels from graduate students to senior staff scientists interested in joining our research team and collaborative network to study the genomics of human disease. Please see contact information here.

The Talkowski lab is funded by:

Recent Posts

XDP study published in Cell

February 22nd, 2018|0 Comments

X-linked Dystonia-Parkinsonism (XDP), is a rare Mendelian disorder predominantly observed on Panay island in the Philippines. The clinical phenotype most frequently combines features of dystonia and parkinsonism in a characteristic temporal progression. A region of […]


1910, 2015

Claire Redin at ASHG 2015

October 19th, 2015|0 Comments

Selected for a Plenary Talk, Claire presented the latest results from the DGAP study.

“By mapping the breakpoints, we were able to identify genes that were disrupted in patients with birth defects, which suggests that these genes […]