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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

Gap in COVAX Doses

BBC News reports that COVAX is experiencing a vaccine shortfall, as the Serum Institute of India has paused exports.

Sanofi, GSK Report Promising Results

The Wall Street Journal reports that the candidate SARS-CoV-2 vaccine from Sanofi and GlaxoSmithKline has had encouraging early results.

Influence of Luck

The New York Times examines how the US avoided variant-fueled increases in COVID-19 cases.

PLOS Papers on Retina GWAS, Hantaan Virus, COVID-19 Phenome-Wide Association Study

In PLOS this week: genome-wide association study of retinal morphology, analysis of hantaan virus found in a mouse, and more.