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Clinical Sequencing Papers of Note: Apr 12, 2011


A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Choi BO, Hee Kang S, Hyun YS, et al.
Hum Mutat. 2011 Feb 24. [Epub ahead of print]

Systematic candidate-gene investigations in the SPA2 locus (9q32) show an association between the gene TNFSF8 and susceptibility to spondyloarthritis.
Zinovieva E, Kadi A, Letourneur F, et al.
Arthritis Rheum. 2011 Apr 7. [Epub ahead of print]

Substance-specific and shared transcription and epigenetic changes in the human hippocampus chronically exposed to cocaine and alcohol.
Zhou Z, Yuan Q, Mash DC, Goldman D.
Proc Natl Acad Sci U S A. 2011 Apr 4. [Epub ahead of print]

Concordance between two phenotypic assays and ultra deep pyrosequencing for determining HIV-1 tropism.
Saliou A, Delobel P, Dubois M, et al.
Antimicrob Agents Chemother. 2011 Apr 4. [Epub ahead of print]

A case of brain abscess caused by Propionibacterium acnes 13 months after neurosurgery and confirmed by 16S rRNA gene sequencing.
Chung S, Kim JS, Seo SW, et al.
Korean J Lab Med. 2011 Apr;31(2):122-6.

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
He H, Liyanarachchi S, Akagi K, et al.
Science. 2011 Apr 8;332(6026):238-40.

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Talkowski ME, Ernst C, Heilbut A, et al.
Am J Hum Genet. 2011 Apr 8;88(4):469-81.

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