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In Print: Last Week's Clinical Sequencing Papers of Note: Apr 17, 2013


Exome sequencing reveals CCDC111 mutation associated with high myopia.
Zhao F, Wu J, Xue A, Su Y, et al.
Hum Genet. 2013 Apr 12. [Epub ahead of print]

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-seq.
van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, et al.
PLoS One. 2013;8(4):e60788.

Whole genome and transcriptome sequencing of a b3 thymoma.
Petrini I, Rajan A, Pham T, Voeller D, et al.
PLoS One. 2013;8(4):e60572.

Relapsed classic E-cadherin (CDH1) mutated invasive lobular breast cancer demonstrates a high frequency of HER2 (ERBB2) gene mutations.
Ross JS, Wang K, Sheehan CE, Boguniewicz A, et al.
Clin Cancer Res. 2013 Apr 10. [Epub ahead of print]

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.
Alazami AM, Alshammari MJ, Baig M, Salih MA, et al.
Clin Genet. 2013 Apr 10. [Epub ahead of print]

Few single nucleotide variations in exomes of human cord blood induced pluripotent stem cells.
Su RJ, Yang Y, Neises A, Payne KJ, et al.
PLoS One. 2013;8(4):e59908.

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, et al.
Eur J Hum Genet. 2013 Apr 10. [Epub ahead of print]

A culture-independent sequence-based metagenomics approach to the investigation of an outbreak of Shiga-toxigenic Escherichia coli O104:H4.
Loman NJ, Constantinidou C, Christner M, Rohde H, et al.
JAMA. 013 Apr 10;309(14):1502-10.

Majority of differentially expressed genes are down-regulated during malignant transformation in a four-stage model.
Danielsson F, Skogs M, Huss M, Rexhepaj E, et al.
Proc Natl Acad Sci U S A. 2013 Apr 8. [Epub ahead of print]

Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia.
Ma Y, Dobbins SE, Sherborne AL, Chubb D, et al.
Proc Natl Acad Sci U S A. 2013 Apr 8. [Epub ahead of print]

Epigenetic deregulation of the anaplastic lymphoma kinase gene modulates mesenchymal characteristics of oral squamous cell carcinomas.
Huang TT, Gonzales CB, Gu F, Hsu YT, et al.
Carcinogenesis. 2013 Apr 8. [Epub ahead of print]

Genome evolution during progression to breast cancer.
Newburger DE, Kashef-Haghighi D, Weng Z, Salari R, et al.
Genome Res. 2013 Apr 8. [Epub ahead of print]

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, et al.
Hum Mutat. 2013 Apr 8. [Epub ahead of print]

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC, Voigt C, Alanay Y, Albrecht B, et al.
Hum Genet. 013 Apr 9. [Epub ahead of print]

The landscape of alternative splicing in buccal mucosa squamous cell carcinoma.
Shah TM, Patel AK, Bhatt VD, Tripathi AK, et al.
Oral Oncol. 2013 Apr 5. [Epub ahead of print]

A carrier-assisted ChIP-seq method for estrogen receptor-chromatin interactions from breast cancer core needle biopsy samples.
Zwart W, Koornstra R, Wesseling J, Rutgers E, et al.
BMC Genomics. 013 Apr 8;14(1):232.

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.