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In Print: Last Week's Clinical Sequencing Papers of Note: Aug 21, 2013


Deep sequencing analysis of the association between the quasispecies nature of the hepatitis C virus core region and disease progression.
Miura M, Maekawa S, Takano S, Komatsu N, et al.
J Virol. 2013 Aug 14. [Epub ahead of print]

MicroRNA-31 predicts the presence of lymph node metastases and survival in lung adenocarcinoma patients.
Meng W, Ye Z, Cui R, Perry J, et al.
Clin Cancer Res. 2013 Aug 14. [Epub ahead of print]

Penetrant telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, et al.
Hum Mutat. 2013 Aug 14. [Epub ahead of print]

Whole genome sequencing analysis of intrapatient microevolution in Mycobacterium tuberculosis: potential impact on the inference of tuberculosis transmission.
Pérez-Lago L, Comas I, Navarro Y, González-Candelas F, et al.
J Infect Dis. 2013 Aug 14. [Epub ahead of print]

Streamlined Ion Torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, et al.
Eur J Hum Genet. 2013 Aug 14. [Epub ahead of print]

Novel clinically relevant genes in gastrointestinal stromal tumors identified by exome sequencing.
Schoppmann SF, Vinatzer U, Popitsch N, Mittlbock M, et al.
Clin Cancer Res. 2013 Aug 13. [Epub ahead of print]

Clonal expansion analysis of transposon insertions by high-throughput sequencing identifies candidate cancer genes in a PiggyBac mutagenesis screen.
Friedel RH, Friedel CC, Bonfert T, Shi R, et al.
PLoS One. 2013 Aug 5;8(8):e72338.

Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.
Shao J, Lou X, Wang J, Zhang J, et al.
PLoS One. 2013 Aug 5;8(8):e70307.

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.
Kamphans T, Sabri P, Zhu N, Heinrich V, et al.
PLoS One. 2013 Aug 5;8(8):e70151.

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, et al.
PLoS One. 2013 Jun 14;8(6):e65574.