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Clinical Sequencing Papers of Note: Jun 8, 2011

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Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.
Chen YW, Zhao W, Zhang ZF, et al.
Pediatr Cardiol. 2011 Jun 4. [Epub ahead of print]


The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.
Bott M, Brevet M, Taylor BS, et al.
Nat Genet. 2011 Jun 5. [Epub ahead of print]


Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Puente XS, Pinyol M, Quesada V, et al.
Nature. 2011 Jun 5. [Epub ahead of print]


Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J, Smaoui N, Hammer M, et al.
Invest Ophthalmol Vis Sci. 2011 Jun 3. [Epub ahead of print]


Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.
Rodriguez G, Ueyama T, Ogata T, et al.
Circ Cardiovasc Genet. 2011 Jun 3. [Epub ahead of print]


Characterizing the impact of smoking and lung cancer on the airway transcriptome using RNA-seq.
Beane J, Vick J, Schembri F, et al.
Cancer Prev Res (Phila) . 2011 Jun;4(6):803-17.


Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
Kapplinger JD, Landstrom AP, Salisbury BA, et al.
J Am Coll Cardiol. 2011 Jun 7;57(23):2317-27.


Exonic DNA sequencing of ERBB4 in bipolar disorder.
Goes FS, Rongione M, Chen YC, et al.
PLoS One. 2011;6(5):e20242.


Germ-line sequence variants of PTEN do not have an important role in hereditary and non-hereditary prostate cancer susceptibility.
Xie CC, Lu L, Sun J, Zheng SL, Isaacs WB, Gronberg H, Xu J.
J Hum Genet. 2011 Jun 2. [Epub ahead of print]


Detection of minority resistance during early HIV-1 infection: natural variation and spurious detection rather than transmission and evolution of multiple viral variants.
Gianella S, Delport W, Pacold ME, et al.
J Virol. 2011 Jun 1. [Epub ahead of print]


High throughput sequencing reveals diversity of human papillomaviruses in cutaneous lesions.
Ekström J, Bzhalava D, Svenback D, Forslund O, Dillner J.
Int J Cancer. 2011 May 31. [Epub ahead of print]


Exome sequencing in a family segregating for celiac disease.
Szperl AM, Ricaño-Ponce I, Li JK, et al.
Clin Genet. 2011 May 31. [Epub ahead of print]


Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.
Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S.
Clin Exp Nephrol. 2011 May 31. [Epub ahead of print]


deFuse: An algorithm for gene fusion discovery in tumor RNA-seq data.
McPherson A, Hormozdiari F, Zayed A, et al.
PLoS Comput Biol. 2011 May;7(5):e1001138.


Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorder.
Schaaf CP, Sabo A, Sakai Y, et al.
Hum Mol Genet. 2011 May 30. [Epub ahead of print]


Amplicon based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA, Schüle R, Klimpe S, et al.
Clin Genet. 2011 May 27. [Epub ahead of print]


The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.