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Cancer Sequencing Papers of Note: Mar 16, 2011


Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.
Yan XJ, Xu J, Gu ZH, et al.
Nat Genet. 2011 Mar 13. [Epub ahead of print]

Tumor evolution inferred by single-cell sequencing.
Navin N, Kendall J, Troge J, et al.
Nature. 2011 Mar 13. [Epub ahead of print]

IgH gene rearrangements as plasma biomarkers in non-Hodgkin's lymphoma patients.
He J, Wu J, Jiao Y, et al.
Oncotarget. 2011 Mar 8;2(3). [Epub ahead of print]

Functional synergies yet distinct modulators affected by genetic alterations in common human cancers.
Bessarabova M, Pustovalova O, Shi W, et al.
Cancer Res. 2011 Mar 11. [Epub ahead of print]

CREBBP mutations in relapsed acute lymphoblastic leukemia.
Mullighan CG, Zhang J, Kasper LH, et al.
Nature. 2011 Mar 10;471(7337):235-9.

Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling.
Wagle N, Emery C, Berger MF, et al.
J Clin Oncol. 2011 Mar 7. [Epub ahead of print]

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.