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


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.

The Scan

Driving Malaria-Carrying Mosquitoes Down

Researchers from the UK and Italy have tested a gene drive for mosquitoes to limit the spread of malaria, NPR reports.

Office Space to Lab Space

The New York Times writes that some empty office spaces are transforming into lab spaces.

Prion Pause to Investigate

Science reports that a moratorium on prion research has been imposed at French public research institutions.

Genome Research Papers on Gut Microbe Antibiotic Response, Single-Cell RNA-Seq Clues to Metabolism, More

In Genome Research this week: gut microbial response to antibiotic treatment, approach to gauge metabolic features from single-cell RNA sequencing, and more.