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In Print: Last Week's Clinical Sequencing Papers of Note: Jul 25, 2012


Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.
Pugh TJ, Weeraratne SD, Archer TC, Pomeranz Krummel DA, et al.
Nature. 2012 Jul 22. [Epub ahead of print]

Chromatin organization is a major influence on regional mutation rates in human cancer cells.
Schuster-Böckler B, Lehner B.
Nature. 2012 Jul 22. [Epub ahead of print]

Minority variants associated with resistance to HIV-1 nonnucleoside reverse transcriptase inhibitors during primary infection.
Nicot F, Saliou A, Raymond S, Sauné K, et al.
J Clin Virol. 2012 Jul 19. [Epub ahead of print]

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, et al.
Am J Hum Genet. 2012 Jul 19. [Epub ahead of print]

The origin and evolution of mutations in acute myeloid leukemia.
Welch JS, Ley TJ, Link DC, Miller CA, et al.
Cell. 2012 Jul 20;150(2):264-78.

High-throughput sequencing analysis of the chromosome 7q32 deletion reveals IRF5 as a potential tumour suppressor in splenic marginal-zone lymphoma.
Fresquet V, Robles EF, Parker A, Martinez-Useros J, et al.
Br J Haematol. 2012 Jul 23. [Epub ahead of print]

FAST-SeqS: a simple and efficient method for the detection of aneuploidy by massively parallel sequencing.
Kinde I, Papadopoulos N, Kinzler KW, Vogelstein B.
PLoS One. 2012;7(7):e41162.

Limitations of the human reference genome for personalized genomics.
Rosenfeld JA, Mason CE, Smith TM.
PLoS One. 2012;7(7):e40294.

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
Pennington KP, Walsh T, Lee M, Pennil C, et al.
Cancer. 2012 Jul 18. [Epub ahead of print]

Comprehensive molecular characterization of human colon and rectal cancer.
Cancer Genome Atlas Network, Muzny DM, Bainbridge MN, et al.
Nature. 2012 Jul 18;487(7407):330-7.

Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins.
Rozenblatt-Rosen O, Deo RC, Padi M, Adelmant G, et al.
Nature. 2012 Jul 18. [Epub ahead of print]

Reproductive decisions after fetal genetic counselling.
Pergament E, Pergament D.
Best Pract Res Clin Obstet Gynaecol. 2012 Jul 16. [Epub ahead of print]

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Wu CH, Fallini C, Ticozzi N, Keagle PJ, et al.
Nature. 2012 Jul 15. [Epub ahead of print]

Whole transcriptome RNA-seq analysis of breast cancer recurrence risk using formalin-fixed paraffin-embedded tumor tissue.
Sinicropi D, Qu K, Collin F, Crager M, et al.
PLoS One. 2012;7(7):e40092.

Search for chromosome rearrangements: New approaches toward discovery of novel translocations in head and neck squamous cell carcinoma.
Wang VW, Laborde RR, Asmann YW, Li Y, et al.
Head Neck. 2012 Jul 17. [Epub ahead of print]

Next generation sequencing for TCR repertoire profiling: platform-specific features and correction algorithms.
Bolotin DA, Mamedov IZ, Britanova OV, Zvyagin IV, et al.
Eur J Immunol. 2012 Jul 18. [Epub ahead of print]

The Scan

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