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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.

The Scan

UCLA Team Reports Cost-Effective Liquid Biopsy Approach for Cancer Detection

The researchers report in Nature Communications that their liquid biopsy approach has high specificity in detecting all- and early-stage cancers.

Machine Learning Improves Diagnostic Accuracy of Breast Cancer MRI, Study Shows

Combining machine learning with radiologists' interpretations further increased the diagnostic accuracy of MRIs for breast cancer, a Science Translational Medicine paper finds.

Genome Damage in Neurons Triggers Alzheimer's-Linked Inflammation

Neurons harboring increased DNA double-strand breaks activate microglia to lead to neuroinflammation like that seen in Alzheimer's disease, a new Science Advances study finds.

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.