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In Print: Last Week's Clinical Sequencing Papers of Note: Dec 7, 2011

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.
Marini NJ, Hoffmann TJ, Lammer EJ, Hardin J, et al.
PLoS One. 2011;6(11):e28408.


A systematic analysis on DNA methylation and the expression of both mRNA and microRNA in bladder cancer.
Zhu J, Jiang Z, Gao F, Hu X, et al.
PLoS One. 2011;6(11):e28223.


Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
Guo G, Gui Y, Gao S, Tang A, et al.
Nat Genet. 2011 Dec 4. [Epub ahead of print]


Sequencing and annotated analysis of an Estonian human genome.
Lilleoja R, Sarapik A, Reimann E, Reemann P, et al.
Gene. 2011 Nov 27. [Epub ahead of print]


Finding disease variants in Mendelian disorders by using sequence data: methods and applications.
Ionita-Laza I, Makarov V, Yoon S, Raby B, et al.
Am J Hum Genet. 2011 Nov 30. [Epub ahead of print]


Accurate sampling and deep sequencing of the HIV-1 protease gene using a primer ID.
Jabara CB, Jones CD, Roach J, Anderson JA, Swanstrom R.
Proc Natl Acad Sci U S A. 2011 Nov 30. [Epub ahead of print]


Genomic anatomy of Escherichia coli O157:H7 outbreaks.
Eppinger M, Mammel MK, Leclerc JE, Ravel J, Cebula TA.
Proc Natl Acad Sci U S A. 2011 Nov 30. [Epub ahead of print]


Excess of rare variants in non-GWAS candidate genes in patients with hypertriglyceridemia.
Johansen CT, Wang J, McIntyre AD, Martins RA, et al.
Circ Cardiovasc Genet. 2011 Dec 1. [Epub ahead of print]


Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, et al.
J Med Genet. 2011 Dec 1. [Epub ahead of print]


Personalized oncology through integrative high-throughput sequencing: a pilot study.
Roychowdhury S, Iyer MK, Robinson DR, Lonigro RJ, et al.
Sci Transl Med. 2011 Nov 30;3(111):111ra121.


Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Pagnamenta AT, Lise S, Harrison V, Stewart H, et al.
J Hum Genet. 2011 Dec 1. [Epub ahead of print]


Detection of somatic copy number alterations in cancer using targeted exome capture sequencing.
Lonigro RJ, Grasso CS, Robinson DR, Jing X, et al.
Neoplasia. 2011 Nov;13(11):1019-25.


Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
Li J, Zhu X, Wang X, Sun W, et al.
J Med Genet. 2011 Nov 30. [Epub ahead of print]


Distinct p53 genomic binding patterns in normal and cancer-derived human cells.
Botcheva K, McCorkle SR, McCombie WR, Dunn JJ, Anderson CW.
Cell Cycle. 2011 Dec 15;10(24).


Specific capture and whole-genome sequencing of viruses from clinical samples.
Depledge DP, Palser AL, Watson SJ, Lai IY, et al.
PLoS One. 2011;6(11):e27805.


On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium.
Lipman PJ, Yip WK, Alchawa T, Ludwig KU, Mangold E, Lange C.
Genet Epidemiol. 2011 Dec;35(8):880-6.

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