In 2003, an international team of researchers completed sequencing of the first human genome — the culmination of a project that spanned 13 years and cost $2.7 billion. This effort paved the way for the genomics revolution that has transformed the understanding of human health and disease and led to new ways to prevent, diagnose, and treat illnesses. Scientists in the Genomics Platform at the Broad Institute, many of whom contributed to the sequencing of the first human genome, now play a leading role in using the latest technologies and pioneering new methods to produce and study high-quality genomic data at a large scale. Today, through the application of technology and computational methods, combined with operational and process design improvements, the Broad Institute sequences thousands of human genomes every week at a cost of less than $1000 per genome.
These genome sequences are being used for a variety of research and clinical purposes, including elucidating the genetic basis of common diseases, diagnosing rare diseases, cataloging human variation across a range of ancestries, and detecting cancer-causing mutations. To learn more about the power of whole genome sequencing, click here.