This is a web-based collaboration area for learning about the science and technology of the Broad. The emphasis is on introductory materials appropriate for new employees or those wanting to learn about areas other than their own. If you have corrections or additions please feel free to edit this page or e-mail zleber@broadinstitute.org. Thank you.
Table of Contents
Genetics
The Cartoon Guide to Genetics: (DEFUNCT) This 1991 book remains a great introduction to genetics and is a highly enjoyable read.
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Next-generation sequencing uses very different sample preparation, chemistry, and imaging to produce much more data per run than the Sanger-type machines used for almost 30 years. The Broad started using next-generation sequencing in 2005. You can read an [[overview of the transition to next-gen or an in-depth review of the technology. Presentations from a 2010 Broad workshop on next-gen sequencing can be found here.
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A variation that occurs in only one individual in a sample population. A doubleton occurs in two individuals.
Notable Genomic Projects
- The Human Genome Project (1990-2003)
A massive U.S. effort to determine the sequence of the entire human genome. The results of the HGP were first published in 2003 and continue to be refined.
- The International HapMap Project (2002-2009)
A collaboration of world scientists and private companies to develop a haplotype map of the human genome, the HapMap, which describes the common patterns of human DNA sequence variation. The HapMap is expected to be a key resource for researchers to use to find genes affecting health, disease, and responses to drugs and environmental factors.
- The Cancer Genome Atlas (2005-present)
This NCI/NHGRI project (TCGA) aims to systematically explore the entire spectrum of genomic changes involved in human cancers and is currently studying more than 20 types of cancer.
- The 1000 Genomes Project (2009-present)
A project to sequence the genomes of a large number of people from selected populations throughout the world in order to find the most common variants. Current plans call for the sequencing of about 2000 samples at 4X coverage.
- Human Microbiome Project (2009-present)
This NIH project (HMP) is designed to characterize the multitude of microbes that live in the various environments of the human body. A major goal of the HMP is to look for correlations between changes in the microbiome and human health.
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Agency Acronyms
| ICGC | International Cancer Genome Consortium |
| NCBI | National Center for Biotechnology Information |
| NCI | National Cancer Institute |
| NHGRI | National Human Genome Research Institute |
| NHLBI | National Heart, Lung, and Blood Institute |
| NIAID | National Institute of Allergy and Infectious Diseases |
| NIH | National Institutes of Health |
| NIMH | National Institute of Mental Health |
| NLM | National Library of Medicine |