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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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.