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In Print: Last Week's Clinical Sequencing Papers of Note: Aug 1, 2012


Differential gene expression in tamoxifen-resistant breast cancer cells revealed by a new analytical model of RNA-seq data.
Huber-Keener KJ, Liu X, Wang Z, Wang Y, et al.
PLoS One. 2012;7(7):e41333.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, et al.
Nat Genet. 2012 Jul 29. [Epub ahead of print]

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW, Wang J, Chen Y, Fu Q, et al.
Nat Genet. 2012 Jul 29. [Epub ahead of print]

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Koenekoop RK, Wang H, Majewski J, Wang X, et al.
Nat Genet. 2012 Jul 29. [Epub ahead of print]

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Krauthammer M, Kong Y, Ha BH, Evans P, et al.
Nat Genet. 2012 Jul 29. [Epub ahead of print]

NMNAT1 mutations cause Leber congenital amaurosis.
Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, et al.
Nat Genet. 2012 Jul 29. [Epub ahead of print]

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, et al.
Am J Hum Genet. 2012 Jul 24. [Epub ahead of print]

Mutational processes molding the genomes of 21 breast cancers.
Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, et al.
Cell. 2012 May 25;149(5):979-93.

Abundant drug-resistant NS3 mutants detected by deep sequencing in HCV-infected patients undergoing NS3 protease inhibitor monotherapy.
Svarovskaia ES, Martin R, McHutchison JG, Miller MD, Mo H.
J Clin Microbiol. 2012 Jul 25. [Epub ahead of print]

Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas.
Gonzalez-Aguilar A, Idbaih A, Boisselier B, Habbita N, et al.
Clin Cancer Res. 2012 Jul 26. [Epub ahead of print]

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Elo JM, Yadavalli SS, Euro L, Isohanni P, et al.
Hum Mol Genet. 2012 Jul 23. [Epub ahead of print]

Dissecting the genomic complexity underlying medulloblastoma.
Jones DT, Jäger N, Kool M, Zichner T, et al.
Nature. 2012 Jul 25. [Epub ahead of print]

Exploratory data from complete genomes of familial Alzheimer disease age-at-onset outliers.
Lalli MA, Garcia G, Madrigal L, Arcos-Burgos M, et al.
Hum Mutat. 2012 Jul 24. [Epub ahead of print]

Application of the whole-transcriptome shotgun sequencing approach to the study of Philadelphia-positive acute lymphoblastic leukemia.
Iacobucci I, Ferrarini A, Sazzini M, Giacomelli E, et al.
Blood Cancer J. 2012 Mar;2(3):e61.

Short read sequence typing (SRST): multi-locus sequence types from short reads.
Inouye M, Conway TC, Zobel J, Holt KE.
BMC Genomics. 2012 Jul 24;13(1):338.

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.
Kamphans T, Krawitz PM.
Bioinformatics. 2012 Jul 23. [Epub ahead of print]

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
Ariani F, Mari F, Amitrano S, Di Marco C, et al.
Clin Genet. 2012 Jul 23. [Epub ahead of print]

The Scan

Comfort of Home

The Guardian reports that AstraZeneca is to run more clinical trials from people's homes with the aim of increasing participant diversity.

Keep Under Control

Genetic technologies are among the tools suggested to manage invasive species and feral animals in Australia, Newsweek says.

Just Make It

The New York Times writes that there is increased interest in applying gene synthesis to even more applications.

Nucleic Acids Research Papers on OncoDB, mBodyMap, Genomicus

In Nucleic Acids Research this week: database to analyze large cancer datasets, human body microbe database, and more.