Skip to main content
Premium Trial:

Request an Annual Quote

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

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.