papers of note

Informaticians at Spain's National Cancer Research Centre develop a methodology for evaluating likely drug efficacy based on specific patient genotypes.

The firm hopes the effort, recently described in the journal Oncotarget, will spur adoption of its testing services by oncologists, particularly in Europe, where it is determined to become a market leader.

The effort, which relied on Oxford BioDynamics' EpiSwitch platform, resulted in an assay that researchers believe could be developed into a test to guide therapy selection for patients.

Given the high yield of miRNA markers they were able to isolate, the researchers believe the approach could be commercialized for routine cancer testing.

A Johns Hopkins team reported its finding in JAMA Cardiology, backed by SNP array data from 21,870 participants culled from several large cardiovascular studies.

Scientists reported this week for the first time a Danish reference genome based on the de novo assembly of 150 genomes from 50 family trios.

September's Bioinformatics Papers of Note
Bernstein BE, Birney E, et al.
An integrated encyclopedia of DNA elements in the human genome.
Nature. 2012 Sep 6;489(7414):57-74.

Next-generation sequencing identifies novel microRNAs in peripheral blood of lung cancer patients.
Keller A, Backes C, Leidinger P, et al.
Mol Biosyst. 2011 Oct 25. [Epub ahead of print]

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Bioinformatics Tool-Related Papers of Note, October 2011

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NPR reports that with medical data being big business, some companies want to get patients involved.

The Asbury Park Press reports on the startup Genomic Prediction's test to determine an embryo's risk of disease.

In PNAS this week: optical mapping allows glimpse of structural variants, disease-linked GATA2 mutations boosts its protein activity, and more.

Senator Elizabeth Warren (D-Mass.) has released the results of a genetic ancestry analysis, the Boston Globe reports.