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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.

The Scan

Unique Germline Variants Found Among Black Prostate Cancer Patients

Through an exome sequencing study appearing in JCO Precision Oncology, researchers have found unique pathogenic or likely pathogenic variants within a cohort of Black prostate cancer patients.

Analysis of Endogenous Parvoviral Elements Found Within Animal Genomes

Researchers at PLOS Biology have examined the coevolution of endogenous parvoviral elements and animal genomes to gain insight into using the viruses as gene therapy vectors.

Saliva Testing Can Reveal Mosaic CNVs Important in Intellectual Disability

An Australian team has compared the yield of chromosomal microarray testing of both blood and saliva samples for syndromic intellectual disability in the European Journal of Human Genetics.

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.