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Clinical Sequencing Papers of Note: Jul 6, 2011


Deep sequencing reveals distinct patterns of DNA methylation in prostate cancer.
Kim JH, Dhanasekaran SM, Prensner JR, et al.
Genome Res. 2011 Jul;21(7):1028-41.

Integrated genomic analyses of ovarian carcinoma.
The Cancer Genome Atlas Research Network
Nature. 2011 Jun 29;474(7353):609-615.

RNA is favorable for analyzing EGFR mutations in malignant pleural effusion of lung cancer.
Tsai TH, Su KY, Wu SG, et al.
Eur Respir J. 2011 Jun 30. [Epub ahead of print]

Next-generation sequencing of microRNAs for breast cancer detection.
Wu Q, Lu Z, Li H, Lu J, Guo L, Ge Q.
J Biomed Biotechnol. 2011;2011:597145.

Evaluation of high throughput sequencing for identifying known and unknown viruses in biological samples.
Cheval J, Sauvage V, Frangeul L, et al.
J Clin Microbiol. 2011 Jun 29. [Epub ahead of print]

Clinical effect of point mutations in myelodysplastic syndromes.
Bejar R, Stevenson K, Abdel-Wahab O, et al.
N Engl J Med. 2011 Jun 30;364(26):2496-506.

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
van de Veerdonk FL, Plantinga TS, Hoischen A, et al.
N Engl J Med. 2011 Jun 29. [Epub ahead of print]

A mild form of mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
Selmer KK, Gilfillan GD, Strømme P, et al.
Eur J Hum Genet. 2011 Jun 29. [Epub ahead of print]

Pyrosequencing-based methods reveal marked inter-individual differences in oncogene mutation burden in human colorectal tumours.
Weidlich S, Walsh K, Crowther D, et al.
Br J Cancer. 2011 Jun 28. [Epub ahead of print]

The Scan

Cell Signaling Pathway Identified as Metastasis Suppressor

A new study in Nature homes in on the STING pathway as a suppressor of metastasis in a mouse model of lung cancer.

Using Bees to Gain Insights into Urban Microbiomes

As bees buzz around, they pick up debris that provides insight into the metagenome of their surroundings, researchers report in Environmental Microbiome.

Age, Genetic Risk Tied to Blood Lipid Changes in New Study

A study appearing in JAMA Network Open suggests strategies to address high lipid levels should focus on individuals with high genetic risk and at specific ages.

Study Examines Insights Gained by Adjunct Trio RNA Sequencing in Complex Pediatric Disease Cases

Researchers in AJHG explore the diagnostic utility of adding parent-child RNA-seq to genome sequencing in dozens of families with complex, undiagnosed genetic disease.