TY  - JOUR
VL  - 15
PB  - BMC
JF  - Genome Biology
A1  - Loennstedt, Ingrid M
A1  - Caramia, Franco
A1  - Li, Jason
A1  - Fumagalli, Debora
A1  - Salgado, Roberto
A1  - Rowan, Andrew
A1  - Salm, Max
A1  - Kanu, Nnennaya
A1  - Savas, Peter
A1  - Horswell, Stuart
A1  - Gade, Stephan
A1  - Loibl, Sibylle
A1  - Neven, Patrick
A1  - Sotiriou, Christos
A1  - Swanton, Charles
A1  - Loi, Sherene
A1  - Speed, Terence P
Y1  - 2014///
N2  - Intra-tumor heterogeneity concerns the existence of genetically different subclones within the same tumor. Single sample quantification of heterogeneity relies on precise determination of chromosomal copy numbers throughout the genome, and an assessment of whether identified mutation variant allele fractions match clonal or subclonal copy numbers. We discuss these issues using data from SNP arrays, whole exome sequencing and pathologist purity estimates on several breast cancers characterized by ERBB2 amplification. We show that chromosomal copy numbers can only be estimated from SNP array signals or sequencing depths for subclonal tumor samples with simple subclonal architectures under certain assumptions.
UR  - https://doi.org/10.1186/preaccept-9755896761283690
ID  - discovery10205418
N1  - Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.

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KW  - Science & Technology
KW  -  Life Sciences & Biomedicine
KW  -  Biotechnology & Applied Microbiology
KW  -  Genetics & Heredity
KW  -  COPY NUMBER ANALYSIS
KW  -  EVOLUTION
KW  -  HETEROGENEITY
KW  -  MUTATIONS
KW  -  ALIGNMENT
KW  -  CANCER
KW  -  TOOL
SN  - 1474-760X
TI  - Deciphering clonality in aneuploid breast tumors using SNP array and sequencing data
AV  - public
IS  - 9
EP  - 23
ER  -