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Clinical Sequencing Papers of Note: Mar 16, 2011


Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
Magri F, Del Bo R, D'Angelo MG, et al.
BMC Med Genet. 2011 Mar 11;12(1):37.

Toward defining the autoimmune microbiome for type 1 diabetes.
Giongo A, Gano KA, Crabb DB, et al.
ISME J. 2011 Jan;5(1):82-91.

Automated identification of medically important bacteria by 16S rRNA gene sequencing using a novel comprehensive database 16SpathDB.
Woo PC, Teng JL, Yeung JM, et al.
J Clin Microbiol. 2011 Mar 9. [Epub ahead of print]

A population genetic approach to mapping neurological disorder genes using deep resequencing.
Myers RA, Casals F, Gauthier J, et al.
PLoS Genet. 2011 Feb;7(2):e1001318.

A mechanism for TCR sharing between T cell subsets and individuals revealed by pyrosequencing.
Venturi V, Quigley MF, Greenaway HY, et al.
J Immunol. 2011 Mar 7. [Epub ahead of print]

The Scan

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.

Rett Syndrome Mouse Model Study Points to RNA Editing Possibilities

Investigators targeted MECP2 in mutant mouse models of Rett syndrome, showing in PNAS that they could restore its expression and dial down symptoms.

Investigators Find Shared, Distinct Genetic Contributors to Childhood Hodgkin Lymphoma

An association study in JAMA Network Open uncovers risk variants within and beyond the human leukocyte antigen locus.

Transcriptomic, Epigenetic Study Appears to Explain Anti-Viral Effects of TB Vaccine

Researchers report in Science Advances on an interferon signature and long-term shifts in monocyte cell DNA methylation in Bacille Calmette-Guérin-vaccinated infant samples.