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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

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

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.