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

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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.

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