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Allele-specific copy number analysis of tumors

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Alex P.
Allele-specific copy number analysis of tumors

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• RSVP to make sure you can get in to the building

• Bring a laptop https://github.com/NYC-OPCCR/2016-12-01

• Food and drinks will be provided :)

Gains and losses of genetic material, aka copy number alterations, are some of the most common and potent drivers of cancer as well as leading to many more subtle effects.

Copy number analysis of clinical sequencing data has crucial implications for treatment. Allele-specific information can substantially improve and extend interpretation of copy number alterations and the context of key somatic mutations.

We will discuss the applications of FACETS, a recently published open-source algorithm. FACETS can work well even with a targeted gene panel from low purity samples common in clinical sequencing.

FACETS : Allele-Specific Copy Number and Clonal Heterogeneity Analysis Tool Estimates for High-Throughput DNA Sequencing.

Shen, R., & Seshan, V. E. (2016). Nucleic Acids Research, (8), 1–9.

http://doi.org/10.1093/nar/gkw520

https://github.com/mskcc/facets

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NYC Computational Cancer Research
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