Human genetic variation Understanding the pattern of common
Human genetic variation
Understanding the pattern of common genetic variation in the human population is a major focus of the program. First, this involves creating a systematic catalog of the full range of genetic variants (large and small, rare and common) present in the human population, through the analysis of DNA sequencing data from hundreds of thousands of people. Second, it involves understanding how, with such information, it becomes possible to undertake systematic studies of the genetic factors underlying inherited susceptibility to common diseases.
Medical and Population Genetics Research
Medical and Population Genetics focuses on understanding how genomic variation contributes to human variation in visible traits, susceptibility to disease, and response to therapy. At the Broad Institute, these efforts involve many teams and labs, but center around the Program in Medical and Population Genetics.
Manhattan plot
The Program in Medical and Population Genetics is a diverse community of experts from a variety of fields — population genetics, statistics, molecular biology, genomics, and bioinformatics — who collaborate to characterize genetic variants and establish their role in disease. The program is a vibrant hub for scientific groups to share ideas and launch collaborative projects. Techniques and methods developed for the study of one disease are then shared and applied to other disease research areas.
Every Thursday morning, program members gather for a lively and highly interactive meeting, featuring talks by scientists within the program or visiting speakers from other institutions. These are often preceded by the Primer series, which introduces program members to a variety of topics in the field.
Members of the program work closely with scientists in the Stanley Center for Psychiatric Research, the Metabolism Program, the Genomics Platform, and the Data Sciences Platform, in addition to many other labs in the Harvard-MIT community and elsewhere Primer on Medical and Population Genetics
The Primer on Medical and Population Genetics is a series of weekly lectures on genetics topics related to human populations and disease. Experts from across the Medical and Population Genetics community at the Broad Institute give in-depth introductions to research in human genetics through overviews of core concepts and practical tutorials on tools for biostatistics, computational genomics, and variant annotation. Several talks each year focus on bioethical considerations in genomics research. Sessions are generally interactive and attendees are encouraged to raise questions.
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