# Kaitlin Samocha Assistant Professor ![Samocha](/sites/g/files/omnuum5321/files/styles/hwp_4_5__480x600/public/2025-06/Samocha%20Photo.jpeg?itok=_KK-bRss) smartphone [617-643-3097](tel:617-643-3097) email laptop\_windows [Lab](https://www.samochalab.org/) laptop\_windows [Publications](https://www.ncbi.nlm.nih.gov/myncbi/1vefrj7loStAc/bibliography/public/) Massachusetts General Hospital Simches Research Building, Room 5.234 185 Cambridge Street Boston, MA 02114 Our group studies patterns of rare genetic variation in large collections of human genomic data, both from patients and reference population individuals, and designs tools and methods to help interpret that variation. We are focused on moving from studying single variants at a time to understanding how they impact disease in their genomic context. Three of our main interests are: 1\. Identifying constrained genomic regions A long-standing interest in our group has been using standing variation in the general population to identify those genes, and genomic regions, that are import to human health. We have previously developed scores that measure a gene’s tolerance to being mutated. These scores have highlighted thousands of genes that appear to be constrained against damaging variation in the general population, and are enriched for mutations in patients with severe disease. 2\. Improving variant interpretation A major challenge in medical genetics is interpreting the potential impacts of variants, which often requires integrating multiple lines of evidence to determine their consequences on disease risk. We aim to improve variant interpretation by using gene-level, region-level, and variant-level information when considering the potential pathogenicity of variants. These improvements are desperately needed to improve clinical diagnostic rates, which remain ~50%. 3\. Associating rare variation with disease One of our central goals has been to develop robust statistical frameworks to associate rare variation with risk for disease. In particular, we have created methods to identify genes that are significantly burdened by de novo (newly arising) mutations. These methods have helped identify dozens of disease-associated genes for autism spectrum disorders, congenital heart disease, and developmental disorders, among others. The Samocha Lab is located across Massachusetts General Hospital (MGH) and the Broad Institute, and benefits from strong collaborations with rare disease researchers in the Translational Genetics Group at Broad and statistical geneticists in the Center for Genomic Medicine and Analytical and Translational Genetics Unit at MGH. - ## Program Affiliation [Genetics](/bbs-faculty/genetics) - ## Discipline [Computational](/discipline/computational) [Genetics](/discipline/genetics) [Genomics](/discipline/genomics) - ## Organism [Human](/organism/human) - ## People [Faculty](/people/faculty) - ## Location [Massachusetts General Hospital](/location/massachusetts-general-hospital)