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Last Week's Clinical Sequencing Papers of Note: Sep 14, 2011


Frequent pathway mutations of splicing machinery in myelodysplasia.
Yoshida K, Sanada M, Shiraishi Y, et al.
Nature. 2011 Sep 11. [Epub ahead of print]

Human immunodeficiency virus type 1 drug resistance testing: Evaluation of a new ultra-deep sequencing-based protocol and comparison with the TRUGENE HIV-1 Genotyping Kit.
Stelzl E, Pröll J, Bizon B, et al.
J Virol Methods. 2011 Aug 27. [Epub ahead of print]

Targeted resequencing of the EGFR and MET genes using the Fluidigm Access Array System and the Roche GS Junior System.
Teiling C, Pieprzyk M.
Biotechniques. 2011 Sep;51(3):198-9.

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis.
Wang X, Wang H, Cao M, et al.
Hum Mutat. 2011 Sep 7. [Epub ahead of print]

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
Saisawat P, Tasic V, Vega-Warner V, et al.
Kidney Int. 2011 Sep 7. [Epub ahead of print]

Next-generation sequencing of dried blood spot specimens: a novel approach to HIV drug-resistance surveillance.
Ji H, Li Y, Graham M, et al.
Antivir Ther. 2011;16(6):871-8.

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.
Jiang Q, Turner T, Sosa MX, et al.

Hum Mutat. 2011 Sep 6. [Epub ahead of print]

Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R, Fallerini C, Dosa L, et al.

Eur J Hum Genet. 2011 Sep 7. [Epub ahead of print]

Deep sequencing of short RNAs reveals novel microRNAs in minor salivary glands of patients with Sjögren's syndrome.
Tandon M, Gallo A, Jang SI, Illei G, Alevizos I.
Oral Dis. 2011 Aug 9. [Epub ahead of print]

Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.
Calloe K, Schmitt N, Grubb S, et al.
Can J Physiol Pharmacol. 2011 Sep 6. [Epub ahead of print]

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

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.