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Last Week's Clinical Sequencing Papers of Note: Oct 19, 2011


Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Sakai H, Suzuki S, Mizuguchi T, Imoto K, et al.
Hum Genet. 2011 Oct 15. [Epub ahead of print]

Pyrosequencing analysis of the apical root canal microbiota.
Siqueira JF Jr, Alves FR, Rôças IN.
J Endod. 2011 Nov;37(11):1499-503.

Guidelines for genetic testing of inherited cardiac disorders.
Ingles J, Zodgekar PR, Yeates L, Macciocca I, et al.
Heart Lung Circ. 2011 Nov;20(11):681-7.

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.
Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, et al.
Blood. 2011 Oct 12. [Epub ahead of print]

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, et al.
N Engl J Med. 2011 Oct 13;365(15):1384-1395.

A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.
Bannwarth S, Abbassi M, Valéro R, Fragaki K, et al.
Diabetes Care. 2011 Oct 12. [Epub ahead of print]

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.
Bertolin C, Magri C, Barlati S, Vettori A, et al.
J Hum Genet. 2011 Oct 13. [Epub ahead of print]

A survey of small RNAs in human sperm.
Krawetz SA, Kruger A, Lalancette C, Tagett R, et al.
Hum Reprod. 2011 Oct 11. [Epub ahead of print]

Establishing the baseline level of repetitive element expression in the human cortex.
Tyekucheva S, Yolken RH, McCombie WR, Parla J, et al.
BMC Genomics. 2011 Oct 10;12(1):495.

The Scan

WHO Seeks Booster Pause

According to CNN, the World Health Organization is calling for a moratorium on administering SARS-CoV-2 vaccine boosters until more of the world has received initial doses.

For Those Long Legs

With its genome sequence and subsequent RNAi analyses, researchers have examined the genes that give long legs to daddy longlegs, New Scientist says.

September Plans

The New York Times reports that the US Food and Drug Administration is aiming for early September for full approval of the Pfizer-BioNTech SARS-CoV-2 vaccine.

Nucleic Acids Research Papers on Targeting DNA Damage Response, TSMiner, VarSAn

In Nucleic Acids Research this week: genetic changes affecting DNA damage response inhibitor response, "time-series miner" approach, and more.