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Open AccessJournal ArticleDOI

Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

TLDR
A method for analyzing the cancer genome at a single-cell nucleotide level is described and essential thrombocythemia-related candidate mutations such as SESN2 and NTRK1 are identified, which may be involved in neoplasm progression.
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This article is published in Cell.The article was published on 2012-03-02 and is currently open access. It has received 524 citations till now. The article focuses on the topics: Exome sequencing & Single cell sequencing.

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Journal ArticleDOI

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

TL;DR: The MuTect algorithm for calling somatic point mutations enables subclonal analysis of the whole-genome or whole-exome sequencing data being generated in large-scale cancer genomics projects as discussed by the authors.
Journal ArticleDOI

Full-length RNA-seq from single cells using Smart-seq2

TL;DR: In this article, the authors presented a detailed protocol for Smart-seq2 that allows the generation of full-length cDNA and sequencing libraries by using standard reagents, and the entire protocol takes ∼2 d from cell picking to having a final library ready for sequencing; sequencing will require an additional 1-3 d depending on the strategy and sequencer.
Journal Article

Patterns of Somatic Mutation in Human Cancer Genomes

TL;DR: In this paper, the coding exons of the family of 518 protein kinases were sequenced in 210 cancers of diverse histological types to explore the nature of the information that will be derived from cancer genome sequencing.

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

TL;DR: MuTect is presented, a method that applies a Bayesian classifier to detect somatic mutations with very low allele fractions, requiring only a few supporting reads, followed by carefully tuned filters that ensure high specificity.

Full-length RNA-seq from single cells using

TL;DR: A detailed protocol is presented for Smart-seq2 that allows the generation of full-length cDNA and sequencing libraries by using standard reagents and the lack of strand specificity and the inability to detect nonpolyadenylated (polyA−) RNA.
References
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Reference EntryDOI

Principal Component Analysis

TL;DR: Principal component analysis (PCA) as discussed by the authors replaces the p original variables by a smaller number, q, of derived variables, the principal components, which are linear combinations of the original variables.
Journal ArticleDOI

Circos: An information aesthetic for comparative genomics

TL;DR: Circos uses a circular ideogram layout to facilitate the display of relationships between pairs of positions by the use of ribbons, which encode the position, size, and orientation of related genomic elements.
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The clonal evolution of tumor cell populations

TL;DR: Each patient's cancer may require individual specific therapy, and even this may be thwarted by emergence of a genetically variant subline resistant to the treatment, which should be directed toward understanding and controlling the evolutionary process in tumors before it reaches the late stage usually seen in clinical cancer.
Journal ArticleDOI

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

TL;DR: This protocol describes the use of the 'Sorting Tolerant From Intolerant' (SIFT) algorithm in predicting whether an AAS affects protein function.
Journal ArticleDOI

Accurate whole human genome sequencing using reversible terminator chemistry

David R. Bentley, +201 more
- 06 Nov 2008 - 
TL;DR: An approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost is reported, effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications.
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