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In Print: Last Week's Clinical Sequencing Papers of Note: Mar 13, 2013


Mitochondrial DNA variations in myelodysplastic syndrome.
Gupta M, Madkaikar M, Rao VB, Mishra A, et al.
Ann Hematol. 2013 Mar 9. [Epub ahead of print]

Identification of a SIRT1 mutation in a family with type 1 diabetes.
Biason-Lauber A, Böni-Schnetzler M, Hubbard BP, Bouzakri K, et al.
Cell Metab. 2013 Mar 5;17(3):448-55.

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
Kong XF, Bousfiha A, Rouissi A, Itan Y, et al.
PLoS One. 2013;8(3):e58286.

Use of whole genome sequencing to determine the microevolution of Mycobacterium tuberculosis during an outbreak.
Kato-Maeda M, Ho C, Passarelli B, Banaei N, et al.
PLoS One. 2013;8(3):e58235.

Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing.
Heitzer E, Auer M, Gasch C, Pichler M, et al.
Cancer Res. 2013 Mar 7. [Epub ahead of print]

An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data.
Shiraishi Y, Sato Y, Chiba K, Okuno Y, et al.
Nucleic Acids Res. 2013 Mar 6. [Epub ahead of print]

BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance.
Falchook GS, Trent JC, Heinrich MC, Beadling C, et al.
Oncotarget. 2013 Feb;4(2):310-5.

Detection of transient bacteraemia following dental extractions by 16S rDNA pyrosequencing: a pilot study.
Benítez-Páez A, Alvarez M, Belda-Ferre P, Rubido S, et al.
PLoS One. 2013;8(3):e57782.

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.
Caruana G, Farlie PG, Hart AH, Bagheri-Fam S, et al.
PLoS One. 2013;8(3):e55429.

454 pyrosequencing analysis on faecal samples from a randomized DBPC trial of colicky infants treated with Lactobacillus reuteri DSM 17938.
Roos S, Dicksved J, Tarasco V, Locatelli E, et al.
PLoS One. 2013;8(2):e56710.

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, et al.
PLoS One. 2013;8(2):e56599.

Increased detection rates of EGFR and KRAS mutations in NSCLC specimens with low tumour cell content by 454 deep sequencing.
Moskalev EA, Stöhr R, Rieker R, Hebele S, et al.
Virchows Arch. 2013 Mar 7. [Epub ahead of print]

Maternal plasma cell-free fetal and maternal DNA at 11-13 weeks' gestation: relation to fetal and maternal characteristics and pregnancy outcomes.
Poon LC, Musci T, Song K, Syngelaki A, Nicolaides KH.
Fetal Diagn Ther. 2013 Mar 5. [Epub ahead of print]

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
Andreasen C, Refsgaard L, Nielsen JB, Sajadieh A , et al.
Can J Cardiol. 2013 Feb 25. [Epub ahead of print]

Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma.
Mosquera JM, Sboner A, Zhang L, Kitabayashi N, et al.
Genes Chromosomes Cancer. 2013 Mar 5. [Epub ahead of print]

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, et al.
Eur J Hum Genet. 2013 Mar 6. [Epub ahead of print]

Targeted sequencing of 179 genes associated with HRDs and 10 candidate genes identifies novel and recurrent mutations in Chinese patients with various retinal diseases.
Chen X, Zhao K, Sheng X, Li Y, et al.
Invest Ophthalmol Vis Sci. 2013 Mar 5. [Epub ahead of print]

Mutational analysis clopidogrel resistance and platelet function in patients scheduled for coronary artery bypass grafting.
Correll M, Johnson CK, Ferrari G, Brizzio M, et al.
Genomics. 2013 Feb 22. [Epub ahead of print]

Next generation sequencing reveals the association of DRB3*02:02 with type I diabetes.
Erlich HA, Valdes AM, McDevitt S, Simen BB, et al.
Diabetes. 2013 Mar 5. [Epub ahead of print]

Detection of arboviruses and other micro-organisms in experimentally infected mosquitoes using massively parallel sequencing.
Hall-Mendelin S, Allcock R, Kresoje N, van den Hurk AF, Warrilow D.
PLoS One. 2013;8(2):e58026.

A deep sequencing approach to uncover the miRNOME in the human heart.
Leptidis S, El Azzouzi H, Lok SI, de Weger R, et al.
PLoS One. 2013;8(2):e57800.