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In Print: Last Week's Clinical Sequencing Papers of Note: Feb 22, 2012


Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N, Robertson PD, Rieder MJ, Zuchner S, et al.
Circ Cardiovasc Genet. 2012 Feb 15. [Epub ahead of print]

Exome analysis of a family with pleiotropic congenital heart disease.
Arrington CB, Bleyl SB, Matsunami N, Bonnell GD, et al.
Circ Cardiovasc Genet. 2012 Feb 15. [Epub ahead of print]

Deep-sequencing analysis reveals that the miR-199a2/214 cluster within DNM3os represents the vast majority of aberrantly expressed microRNAs in Sézary syndrome.
Qin Y, Buermans HP, van Kester MS, van der Fits L, et al.
J Invest Dermatol. 2012 Feb 16. [Epub ahead of print]

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
Al-Thihli K, Ebrahim H, Hughes DA, Patel M, et al.
Gene. 2012 Jan 31. [Epub ahead of print]

Truncations of titin causing dilated cardiomyopathy.
Herman DS, Lam L, Taylor MR, Wang L, et al.
N Engl J Med. 2012 Feb 16;366(7):619-28.

Full-genome dissection of an epidemic of severe invasive disease caused by a hypervirulent, recently emerged clone of group A Streptococcus.
Fittipaldi N, Beres SB, Olsen RJ, Kapur V, et al.
Am J Pathol. 2012 Feb 10. [Epub ahead of print]

The Scan

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.

Study Reveals Potential Sex-Specific Role for Noncoding RNA in Depression

A long, noncoding RNA called FEDORA appears to be a sex-specific regulator of major depressive disorder, affecting more women, researchers report in Science Advances.

New mRNA Vaccines Offer Hope for Fighting Malaria

A George Washington University-led team has developed mRNA vaccines for malaria that appear to provide protection in mice, as they report in NPJ Vaccines.

Unique Germline Variants Found Among Black Prostate Cancer Patients

Through an exome sequencing study appearing in JCO Precision Oncology, researchers have found unique pathogenic or likely pathogenic variants within a cohort of Black prostate cancer patients.