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In Print: Last Week's Clinical Sequencing Papers of Note: Nov 14, 2012


Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
Rodriguez-Flores JL, Fuller J, Hackett NR, Salit J, et al.
PLoS One. 2012;7(11):e47614.

Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.
Dan S, Wang W, Ren J, Li Y, et al.
Prenat Diagn. 2012 Nov 9:1-8. [Epub ahead of print]

Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.
Yu L, Wynn J, Cheung YH, Shen Y, et al.
Hum Genet. 2012 Nov 9. [Epub ahead of print]

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
Karkheiran S, Krebs CE, Makarov V, Nilipour Y, et al.
Hum Genet. 2012 Nov 9. [Epub ahead of print]

Assuring the quality of next-generation sequencing in clinical laboratory practice.
Gargis AS, Kalman L, Berry MW, Bick DP, et al.
Nat Biotechnol. 2012 Nov;30(11):1033-6.

Increased frequency of single base substitutions in a population of transcripts expressed in cancer cells.
Bianchetti L, Kieffer D, Féderkeil R, Poch O.
BMC Cancer. 2012 Nov 8;12(1):509.

The public health value of next generation DNA sequencing of enterohaemorrhagic Escherichia coli from an outbreak.
Underwood AP, Dallman T, Thomson NR, Williams M, et al.
J Clin Microbiol. 2012 Nov 7. [Epub ahead of print]

Genomic comparison of Escherichia coli O104:H4 isolates from 2009 and 2011 reveals plasmid, and prophage heterogeneity, including Shiga toxin encoding phage stx2.
Ahmed SA, Awosika J, Baldwin C, Bishop-Lilly KA, et al.
PLoS One. 2012;7(11):e48228.

Reconstructing the dynamics of HIV evolution within hosts from serial deep sequence data.
Poon AF, Swenson LC, Bunnik EM, Edo-Matas D, et al.
PLoS Comput Biol. 2012 Nov;8(11):e1002753.

MicroRNA sequence profiles of human kidney allografts with or without tubulointerstitial fibrosis.
Ben-Dov IZ, Muthukumar T, Morozov P, Mueller FB, et al.
Transplantation. 2012 Nov 5. [Epub ahead of print]

Evaluating mitochondrial DNA variation in autism spectrum disorders.
Hadjixenofontos A, Schmidt MA, Whitehead PL, Konidari I, et al.
Ann Hum Genet. 2012 Nov 6. [Epub ahead of print]

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.
Snow AL, Xiao W, Stinson JR, Lu W, et al.
J Exp Med. 2012 Nov 5. [Epub ahead of print]

Novel BRD4-NUT fusion isoforms increase the pathogenic complexity in NUT midline carcinoma.
Thompson-Wicking K, Francis RW, Stirnweiss A, Ferrari E, et al.
Oncogene. 2012 Nov 5. [Epub ahead of print]

Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.
Rinner B, Gallè B, Trajanoski S, Fischer C, et al.
BMC Genomics. 2012 Nov 5;13(1):594.

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