Skip to main content
Premium Trial:

Request an Annual Quote

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


Geno2pheno[454]: a web server for the prediction of HIV-1 coreceptor usage from next-generation sequencing data.
Thielen A, Lengauer T.
Intervirology. 2012;55(2):113-7.

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project, Wu G, et al.
Nat Genet. 2012 Jan 29. [Epub ahead of print]

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Schwartzentruber J, Korshunov A, Liu XY, Jones DT, et al.
Nature. 2012 Jan 29. [Epub ahead of print]

JointSNVMix : a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next generation sequencing data.
Roth A, Morin R, Ding J, Crisan A, et al.
Bioinformatics. 2012 Jan 27. [Epub ahead of print]

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, et al.
Am J Hum Genet. 2012 Jan 24. [Epub ahead of print]

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Mayr JA, Haack TB, Graf E, Zimmermann FA, et al.
Am J Hum Genet. 2012 Jan 24. [Epub ahead of print]

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, et al.
Genet Med. 2012 Jan 26. [Epub ahead of print]

Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, et al.
PLoS One. 2012;7(1):e28936.

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.
Izawa K, Hijikata A, Tanaka N, Kawai T, et al.
DNA Res. 2012 Jan 24. [Epub ahead of print]

Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.
van den Oever JM, Balkassmi S, Verweij EJ, van Iterson M, et al.
Clin Chem. 2012 Jan 25. [Epub ahead of print]

Analysis of hepatitis C virus intra-host diversity across the coding region by ultra-deep pyrosequencing.
Lauck M, Alvarado-Mora MV, Becker EA, Bhattacharya D, et al.
J Virol. 2012 Jan 25. [Epub ahead of print]

High-throughput decoding of antitrypanosomal drug efficacy and resistance.
Alsford S, Eckert S, Baker N, Glover L, et al.
Nature. 2012 Jan 25. [Epub ahead of print]

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE, Compton AG, Hershman SG, Lim SC, et al.
Sci Transl Med. 2012 Jan 25;4(118):118ra10.

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Audo I, Bujakowska KM, Leveillard T, Mohand-Said S, et al.
Orphanet J Rare Dis. 2012 Jan 25;7(1):8.

Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the board of the International Society for Prenatal Diagnosis, 24 October 2011.
Benn P, Borrell A, Cuckle H, Dugoff L, et al.
Prenat Diagn. 2012 Jan 24:1-2.

Application of RNA-seq transcriptome analysis: CD151 is an invasion/migration target in all stages of epithelial ovarian cancer.
Mosig RA, Lin L, Senturk E, Shah H, et al.
J Ovarian Res. 2012 Jan 24;5(1):4.

Genome-wide progesterone receptor binding: cell type-specific and shared mechanisms in T47D breast cancer cells and primary leiomyoma cells.
Yin P, Roqueiro D, Huang L, Owen JK, et al.
PLoS One. 2012;7(1):e29021.

Cancer genomics: technology, discovery, and translation.
Tran B, Dancey JE, Kamel-Reid S, McPherson JD, et al.
J Clin Oncol. 2012 Jan 23. [Epub ahead of print]

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.