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Last Week's Clinical Sequencing Papers of Note: Jan 22, 2014


Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?
Ploski R, Pollak A, Müller S, Franaszczyk M, et al.
Circ Res. 2014 Jan 17;114(2):e2-5.

Comprehensive Genomic Analysis of Rhabdomyosarcoma Reveals a Landscape of Alterations Affecting a Common Genetic Axis in Fusion-Positive and Fusion-Negative Tumors.
Shern JF, Chen L, Chmielecki J, Wei JS, et al.
Cancer Discov. 2014 Jan 16. [Epub ahead of print]

Drawing a high-resolution functional map of adeno-associated virus capsid by massively parallel sequencing.
Adachi K, Enoki T, Kawano Y, Veraz M, Nakai H.
Nat Commun. 2014 Jan 17;5:3075.

Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy.
Lohr JG, Stojanov P, Carter SL, Cruz-Gordillo P, et al.
Cancer Cell. 2014 Jan 13;25(1):91-101.

Healthcare-associated outbreak of meticillin-resistant Staphylococcus aureus bacteraemia: role of a cryptic variant of an epidemic clone.
Miller RM, Price JR, Batty EM, Didelot X, et al.
J Hosp Infect. 2013 Dec 21. pii: S0195-6701(13)00403-9.

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T, Riazifar H, Liu L, Donkervoort S, et al.
J Med Genet. 2014 Jan 15. [Epub ahead of print]

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
Ayhan O, Balkan M, Guven A, Hazan R, et al.
J Med Genet. 2014 Jan 15. [Epub ahead of print]

Brief Report: Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome.
Omoyinmi E, Melo Gomes S, Standing A, Rowczenio DM, et al.
Arthritis Rheumatol. 2014 Jan;66(1):197-202.

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, et al.
J Hum Genet. 2014 Jan 16. [Epub ahead of print]

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.
Bolli N, Avet-Loiseau H, Wedge DC, Van Loo P, et al.
Nat Commun. 2014 Jan 16;5:2997.

Deep RNA Sequencing Reveals Dynamic Regulation of Myocardial Noncoding RNA in Failing Human Heart and Remodeling with Mechanical Circulatory Support.
Yang KC, Yamada KA, Patel AY, Topkara VK, et al.
Circulation. 2014 Jan 15. [Epub ahead of print]

Detection of bacterial DNA in lymph nodes of Crohn's disease patients using high throughput sequencing.
O'Brien CL, Pavli P, Gordon DM, Allison GE.
Gut. 2014 Jan 15. [Epub ahead of print]

Next-generation sequencing of disseminated tumor cells.
Møller EK, Kumar P, Voet T, Peterson A, et al.
Front Oncol. 2013 Dec 31;3:320.

Molecular Profiling of HNSCC Cells and Tumors Reveals a Rational Approach to Preclinical Model Selection.
Li H, Wawrose JS, Gooding WE, Garraway LA, et al.
Mol Cancer Res. 2014 Jan 14. [Epub ahead of print]

Clinical significance of the ubiquitin ligase E3C in hepatocellular carcinoma revealed by exome sequencing.
Jiang JH, Liu YF, Ke AW, Gu FM, et al.
Hepatology. 2014 Jan 15. [Epub ahead of print]

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan D, Karaca E, Aydin H, Beck CR, et al.
Eur J Hum Genet. 2014 Jan 15. [Epub ahead of print]

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R, Mandel H, Saada A, Lerer I, et al.
Eur J Hum Genet. 2014 Jan 15. [Epub ahead of print]

Managing clinically significant findings in research: the UK10K example.
Kaye J, Hurles M, Griffin H, Grewal J, et al.
Eur J Hum Genet. 2014 Jan 15. [Epub ahead of print]

A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.
Albaqumi M, Alhabib FA, Shamseldin HE, Mohammed F, Alkuraya FS.
J Med Genet. 2014 Jan 13. [Epub ahead of print]

Stabilization of Disease after Targeted Therapy in a Thymic Carcinoma with KIT Mutation Detected by Clinical Next-Generation Sequencing.
Hagemann IS, Govindan R, Javidan-Nejad C, Pfeifer JD, Cottrell CE.
J Thorac Oncol. 2014 Feb;9(2):e12-6.

Simultaneous Characterization of Somatic Events and HPV-18 Integration in a Metastatic Cervical Carcinoma Patient Using DNA and RNA Sequencing.
Liang WS, Aldrich J, Nasser S, Kurdoglu A, et al.
Int J Gynecol Cancer. 2014 Jan 9. [Epub ahead of print]

Comprehensive Genomic Profiling of Relapsed and Metastatic Adenoid Cystic Carcinomas by Next-generation Sequencing Reveals Potential New Routes to Targeted Therapies.
Ross JS, Wang K, Rand JV, Sheehan CE, et al.
Am J Surg Pathol. 2014 Feb;38(2):235-8.

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, et al.
Gastroenterology. 2014 Jan 10. [Epub ahead of print]

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
Papaemmanuil E, Rapado I, Li Y, Potter NE, et al.
Nat Genet. 2014 Jan 12. [Epub ahead of print]

Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas.
Palomero T, Couronné L, Khiabanian H, Kim MY, et al.
Nat Genet. 2014 Jan 12. [Epub ahead of print]

Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.
Brastianos PK, Taylor-Weiner A, Manley PE, Jones RT, et al.
Nat Genet. 2014 Jan 12. [Epub ahead of print]

Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T-cells and granulocytes.
Wang L, Swierczek S, Drummond J, Hickman K, et al.
Leukemia. 2014 Jan 13. [Epub ahead of print]

Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam.
Ta MH, Tran TH, Do NH, Pham le AT, et al.
Taiwan J Obstet Gynecol. 2013 Dec;52(4):534-9.

Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations.
Ihle MA, Fassunke J, König K, Grünewald I, et al.
BMC Cancer. 2014 Jan 10;14(1):13.

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
Cukier HN, Dueker ND, Slifer SH, Lee JM, et al.
Mol Autism. 2014 Jan 10;5(1):1.