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Recent Clinical Sequencing Papers of Note: Aug 13, 2014


SciClone: Inferring clonal architecture and tracking the spatial and temporal patterns of tumor evolution.
Miller CA, White BS, Dees ND, Griffith M, et al.
PLOS Comput Biol. 2014 Aug 7;10(8):e1003665.

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
Saitsu H, Tohyama J, Walsh T, Kato M, et al.
J Hum Genet. 2014 Aug 7. [Epub ahead of print]

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
Feng L, Zhou D, Zhang Z, Liu Y, Yang Y.
J Hum Genet. 2014 Aug 7. [Epub ahead of print]

Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.
Wu J, Chen L, Tam OS, Huang XF, et al.
Biomed Res Int. 2014;2014:302487.

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with Wiskott-Aldrich syndrome.
O'Connell AE, Volpi S, Dobbs K, Fiorini C, et al.
Front Immunol. 2014 Jul 18;5:340.

Exploring the potential of next-generation sequencing in diagnosis of respiratory viruses.
Prachayangprecha S, Schapendonk CM, Koopmans MP, Osterhaus AD, et al.
Clin Microbiol. 2014 Aug 6. [Epub ahead of print]

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Hanks S, Perdeaux ER, Seal S, Ruark E, et al.
Nat Commun. 2014 Aug 7;5:4398.

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.
Eggers S, Smith KR, Bahlo M, Looijenga LH, et al.
Eur J Hum Genet. 2014 Aug 6. [Epub ahead of print]

Dependable and efficient clinical utility of target capture based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J, Zhang VW, Feng Y, Tian X, et al.
Invest Ophthalmol Vis Sci. 2014 Aug 5. [Epub ahead of print]

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
Davidson AE, Cheong SS, Hysi PG, Venturini C, et al.
PLOS One. 2014 Aug 5;9(8):e104163.

Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation.
Bejar R, Stevenson KE, Caughey B, Lindsley RC, et al.
J Clin Oncol. 2014 Aug 4. [Epub ahead of print]

Genomic predictors of survival in patients with high-grade urothelial carcinoma of the bladder.
Kim PH, Cha EK, Sfakianos JP, Iyer G, et al.
Eur Urol. 2014 Aug 1. [Epub ahead of print]

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
Hong N, Chen YH, Xie C, Xu BS, et al.
J Zhejiang Univ Sci B. 2014 Aug;15(8):727-34.

Interactive transcriptome analysis of malaria patients and infecting Plasmodium falciparum.
Yamagishi J, Natori A, Tolba ME, Mongan AE et al.
Genome Res. 2014 Aug 4. [Epub ahead of print]

A DNA methylation map of human atherosclerosis.
Zaina S, Heyn H, Carmona FJ, Varol N, et al.
Circ Cardiovasc Genet. 2014 Aug 4.

Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma.
Van Allen EM, Mouw KW, Kim P, Iyer G, et al.
Cancer Discov. 2014 Aug 5. [Epub ahead of print]

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.
Lehman A, Stittrich AB, Glusman G, Zong Z, et al.
Am J Med Genet A. 2014 Aug 4. [Epub ahead of print]

Clinical PathoScope: rapid alignment and filtration for accurate pathogen identification in clinical samples using unassembled sequencing data.
Byrd AL, Perez-Rogers JF, Manimaran S, Castro-Nallar E, et al.
BMC Bioinformatics. 2014 Aug 4;15(1):262.