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In Print: Last Week's Clinical Sequencing Papers of Note: Apr 17, 2013


Exome sequencing reveals CCDC111 mutation associated with high myopia.
Zhao F, Wu J, Xue A, Su Y, et al.
Hum Genet. 2013 Apr 12. [Epub ahead of print]

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-seq.
van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, et al.
PLoS One. 2013;8(4):e60788.

Whole genome and transcriptome sequencing of a b3 thymoma.
Petrini I, Rajan A, Pham T, Voeller D, et al.
PLoS One. 2013;8(4):e60572.

Relapsed classic E-cadherin (CDH1) mutated invasive lobular breast cancer demonstrates a high frequency of HER2 (ERBB2) gene mutations.
Ross JS, Wang K, Sheehan CE, Boguniewicz A, et al.
Clin Cancer Res. 2013 Apr 10. [Epub ahead of print]

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.
Alazami AM, Alshammari MJ, Baig M, Salih MA, et al.
Clin Genet. 2013 Apr 10. [Epub ahead of print]

Few single nucleotide variations in exomes of human cord blood induced pluripotent stem cells.
Su RJ, Yang Y, Neises A, Payne KJ, et al.
PLoS One. 2013;8(4):e59908.

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, et al.
Eur J Hum Genet. 2013 Apr 10. [Epub ahead of print]

A culture-independent sequence-based metagenomics approach to the investigation of an outbreak of Shiga-toxigenic Escherichia coli O104:H4.
Loman NJ, Constantinidou C, Christner M, Rohde H, et al.
JAMA. 013 Apr 10;309(14):1502-10.

Majority of differentially expressed genes are down-regulated during malignant transformation in a four-stage model.
Danielsson F, Skogs M, Huss M, Rexhepaj E, et al.
Proc Natl Acad Sci U S A. 2013 Apr 8. [Epub ahead of print]

Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia.
Ma Y, Dobbins SE, Sherborne AL, Chubb D, et al.
Proc Natl Acad Sci U S A. 2013 Apr 8. [Epub ahead of print]

Epigenetic deregulation of the anaplastic lymphoma kinase gene modulates mesenchymal characteristics of oral squamous cell carcinomas.
Huang TT, Gonzales CB, Gu F, Hsu YT, et al.
Carcinogenesis. 2013 Apr 8. [Epub ahead of print]

Genome evolution during progression to breast cancer.
Newburger DE, Kashef-Haghighi D, Weng Z, Salari R, et al.
Genome Res. 2013 Apr 8. [Epub ahead of print]

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, et al.
Hum Mutat. 2013 Apr 8. [Epub ahead of print]

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC, Voigt C, Alanay Y, Albrecht B, et al.
Hum Genet. 013 Apr 9. [Epub ahead of print]

The landscape of alternative splicing in buccal mucosa squamous cell carcinoma.
Shah TM, Patel AK, Bhatt VD, Tripathi AK, et al.
Oral Oncol. 2013 Apr 5. [Epub ahead of print]

A carrier-assisted ChIP-seq method for estrogen receptor-chromatin interactions from breast cancer core needle biopsy samples.
Zwart W, Koornstra R, Wesseling J, Rutgers E, et al.
BMC Genomics. 013 Apr 8;14(1):232.