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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

Push Toward Approval

The Wall Street Journal reports the US Food and Drug Administration is under pressure to grant full approval to SARS-CoV-2 vaccines.

Deer Exposure

About 40 percent of deer in a handful of US states carry antibodies to SARS-CoV-2, according to Nature News.

Millions But Not Enough

NPR reports the US is set to send 110 million SARS-CoV-2 vaccine doses abroad, but that billions are needed.

PNAS Papers on CRISPR-Edited Cancer Models, Multiple Sclerosis Neuroinflammation, Parasitic Wasps

In PNAS this week: gene-editing approach for developing cancer models, role of extracellular proteins in multiple sclerosis, and more.