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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

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.

Lupus Heterogeneity Highlighted With Single-Cell Transcriptomes

Using single-cell RNA sequencing, researchers in Nature Communications tracked down immune and non-immune cell differences between discoid lupus erythematosus and systemic lupus erythematosus.

Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

With an approach called MELT, researchers in the European Journal of Human Genetics uncovered mobile element insertions in exomes from 3,232 individuals with or without developmental or neurological abnormalities.

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.