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Last Week's Clinical Sequencing Papers of Note: Aug 24, 2011


FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer.
Park DJ, Odefrey FA, Hammet F, Giles GG, et al.
Breast Cancer Res Treat. 2011 Aug 21. [Epub ahead of print]

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a Northern Swedish population.
Moens LN, De Rijk P, Reumers J, Van Den Bossche MJ, et al.
PLoS One. 2011;6(8):e23450.

Drug-resistant genotypes and multi-clonality in Plasmodium falciparum analysed by direct genome sequencing from peripheral blood of malaria patients.
Robinson T, Campino SG, Auburn S, Assefa SA, et al.
PLoS One. 2011;6(8):e23204.

High-throughput semi-quantitative analysis of insertional mutations in heterogeneous tumors.
Koudijs MJ, Klijn C, van der Weyden L, Kool J, et al.
Genome Res. 2011 Aug 18. [Epub ahead of print]

Design considerations for massively parallel sequencing studies of complex human disease.
Feng BJ, Tavtigian SV, Southey MC, Goldgar DE.
PLoS One. 2011;6(8):e23221.

Transcriptional profiling of psoriasis using RNA-seq reveals previously unidentified differentially expressed genes.
Jabbari A, Suárez-Fariñas M, Dewell S, Krueger JG.
J Invest Dermatol. 2011 Aug 18. doi: 10.1038/jid.2011.267. [Epub ahead of print]

EX-HOM (EXome HOMozygosity): A proof of principle.
Pippucci T, Benelli M, Magi A, Martelli PL, et al.
Hum Hered. 2011 Aug 18;72(1):45-53.

Deep sequencing of plasma and proviral HIV-1 to establish coreceptor usage: What is the clinical impact of the quasispecies distribution?
Abbate I, Rozera G, Giombini E, D'Offizi G, et al.
J Infect Dis. 2011 Sep;204(6):971-3.

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
Marrakchi S, Guigue P, Renshaw BR, Puel A, et al.
N Engl J Med. 2011 Aug 18;365(7):620-8.

Identification and functional analysis of novel THAP1 mutations.
Lohmann K, Uflacker N, Erogullari A, Lohnau T, et al.
Eur J Hum Genet. 2011 Aug 17. doi: 10.1038/ejhg.2011.159. [Epub ahead of print]

Evaluation of a selection strategy before use of 16S rRNA gene sequencing for the identification of clinically significant gram-negative rods and coccobacilli.
Mahlen SD, Clarridge JE 3rd.
Am J Clin Pathol. 2011 Sep;136(3):381-8.

The Scan

Guidelines for Ancient DNA Work

More than two dozen researchers have developed new ethical guidelines for conducting ancient DNA research, which they present in Nature.

And Cleared

A UK regulator has cleared former UK Prime Minister David Cameron in concerns he should have registered as a consultant-lobbyist for his work with Illumina, according to the Financial Times.

Suit Over Allegations

The Boston Globe reports that David Sabatini, who was placed on leave from MIT after allegations of sexual harassment, is suing his accuser, the Whitehead Institute, and the institute's director.

Nature Papers on Esophageal Cancer, Origin of Modern Horses, Exome Sequencing of UK Biobank Participants

In Nature this week: genetic and environmental influences of esophageal cancer, domestic horse origin traced to Western Eurasian steppes, and more.