TY - GEN
T1 - Inferring intra-tumor heterogeneity from high-throughput DNA sequencing data
AU - Oesper, Layla
AU - Mahmoody, Ahmad
AU - Raphael, Benjamin J.
PY - 2013/4/3
Y1 - 2013/4/3
N2 - Cancer is a disease driven in part by somatic mutations that accumulate during the lifetime of an individual. The clonal theory [1] posits that the cancerous cells in a tumor are descended from a single founder cell and that descendants of this cell acquired multiple mutations beneficial for tumor growth through rounds of selection and clonal expansion. A tumor is thus a heterogeneous population of cells, with different subpopulations of cells containing both clonal mutations from the founder cell or early rounds of clonal expansion, and subclonal mutations that occurred after the most recent clonal expansion. Most cancer sequencing projects sequence a mixture of cells from a tumor sample including admixture by normal (non-cancerous) cells and different subpopulations of cancerous cells. In addition most solid tumors exhibit extensive aneuploidy and copy number aberrations. Intra-tumor heterogeneity and aneuploidy conspire to complicate analysis of somatic mutations in sequenced tumor samples.
AB - Cancer is a disease driven in part by somatic mutations that accumulate during the lifetime of an individual. The clonal theory [1] posits that the cancerous cells in a tumor are descended from a single founder cell and that descendants of this cell acquired multiple mutations beneficial for tumor growth through rounds of selection and clonal expansion. A tumor is thus a heterogeneous population of cells, with different subpopulations of cells containing both clonal mutations from the founder cell or early rounds of clonal expansion, and subclonal mutations that occurred after the most recent clonal expansion. Most cancer sequencing projects sequence a mixture of cells from a tumor sample including admixture by normal (non-cancerous) cells and different subpopulations of cancerous cells. In addition most solid tumors exhibit extensive aneuploidy and copy number aberrations. Intra-tumor heterogeneity and aneuploidy conspire to complicate analysis of somatic mutations in sequenced tumor samples.
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U2 - 10.1007/978-3-642-37195-0_14
DO - 10.1007/978-3-642-37195-0_14
M3 - Conference contribution
AN - SCOPUS:84875516747
SN - 9783642371943
T3 - Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
SP - 171
EP - 172
BT - Research in Computational Molecular Biology - 17th Annual International Conference, RECOMB 2013, Proceedings
T2 - 17th Annual International Conference on Research in Computational Molecular Biology, RECOMB 2013
Y2 - 7 April 2013 through 10 April 2013
ER -