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In Print: Last Week's Clinical Sequencing Papers of Note: Jul 11, 2012


Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes.
Redin C, Le Gras S, Mhamdi O, Geoffroy V, et al.
J Med Genet. 2012 Jul 7. [Epub ahead of print]

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
Mondal K, Ramachandran D, Patel VC, Hagen KR, et al.
Hum Mol Genet. 2012 Jul 5. [Epub ahead of print]

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, et al.
Nat Genet. 2012 Jul 8. [Epub ahead of print]

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, et al.
Nat Genet. 2012 Jul 8. [Epub ahead of print]

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Zhou W, Otto EA, Cluckey A, Airik R, et al.
Nat Genet. 2012 Jul 8. [Epub ahead of print]

RNA sequencing of pancreatic circulating tumour cells implicates WNT signalling in metastasis.
Yu M, Ting DT, Stott SL, Wittner BS, et al.
Nature. 2012 Jul 1. [Epub ahead of print]

Non-invasive prenatal measurement of the fetal genome.
Fan HC, Gu W, Wang J, Blumenfeld YJ, et al.
Nature. 2012 Jul 4. [Epub ahead of print]
(See our coverage of this paper here.)

Population-based variation in cardiomyopathy genes.
Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, et al.
Circ Cardiovasc Genet. 2012 Jul 4. [Epub ahead of print]

Cancer of the ampulla of Vater: analysis of the whole genome sequence exposes a potential therapeutic vulnerability.
Demeure MJ, Craig DW, Sinari S, Moses TM, et al.
Genome Med. 2012 Jul 4;4(7):56.

MuSiC: Identifying mutational significance in cancer genomes.
Dees ND, Zhang Q, Kandoth C, Wendl MC, et al.
Genome Res. 2012 Jul 3. [Epub ahead of print]

Analysis of hepatitis B virus drug-resistant mutant haplotypes by ultra-deep pyrosequencing.
Ko SY, Oh HB, Park CW, Lee HC, Lee JE.
Clin Microbiol Infect. 2012 Jun 1. [Epub ahead of print]

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, et al.
Acta Neuropathol. 2012 Jul 3. [Epub ahead of print]

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.
Pyle A, Griffin H, Yu-Wai-Man P, Duff J, et al.
Arch Neurol. 2012 Jul 2:1-4. [Epub ahead of print]

Identification of a HMGA2-EFCAB6 gene rearrangement following next-generation sequencing in a patient with a t(12;22)(q14.3;q13.2) and JAK2V617F-positive myeloproliferative neoplasm.
Martin SE, Sausen M, Joseph A, Kingham BF, Martin ES.
Cancer Genet. 2012 Jun;205(6):295-303.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Staropoli JF, Karaa A, Lim ET, Kirby A, et al.
Am J Hum Genet. 2012 Jun 26. [Epub ahead of print]

Bioinformatical clonality analysis of next generation sequencing derived viral vector integration sites.
Arens A, Appelt JU, Bartholomae C, Gabriel R, et al.
Hum Gene Ther Methods. 2012 Jun 29. [Epub ahead of print]

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