Medical Re-sequencing

The focus for the BCM-HGSC medical re-sequencing (MedRS) pipeline is to explore the entire spectrum of genomic change in disease through the application of genome analysis technologies, including large-scale genome sequencing.

The Cancer Genome Atlas Pilot Project was initiated in 2006 to identify important genetic changes involved in lung, brain, and ovarian cancers. The overall effort was preceded by a technical demonstration project, known as the Tumor Sequencing Project (TSP), to determine the feasibility of a full-scale effort to systematically explore the universe of genomic changes involved in all types of human cancer. The TSP has focused on developing and testing the complex science and technology framework needed to identify and characterize the genetic mutations and other genomic changes associated with cancer.

The goal of studying the human genome has always been to improve human health by empowering the research community to reach long-range objectives of understanding disease at the molecular level and will help transform the bench-to-bedside research paradigm with prevention, early diagnosis, targeted treatment and a cure.

To date, the BCM-HGSC has established well over 30 collaborations to study a variety of diseases with more than 6,000 genes being analyzed.

Related Publications

Vij S, Kuhl H, Kuznetsova IS, Komissarov A, Yurchenko AA, Van Heusden P, et al. Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding. PLoS Genet. 2016 ;12(4):e1005954.

Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, et al. Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010 ;11(6):R62.

Wu W, Stupi BP, Litosh VA, Mansouri D, Farley D, Morris S, et al. Termination of DNA synthesis by N6-alkylated, not 3'-O-alkylated, photocleavable 2'-deoxyadenosine triphosphates. Nucleic Acids Res. 2007 ;35(19):6339-49.