Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status
J Mol Diagn. 2014 Feb 10. [Epub ahead of print]
Tanner, et al.
The authors report the development of the Pan-Ethnic Carrier Screening assay, a targeted sequencing assay for routine screening that simultaneously detects 461 common mutations in 91 different genes underlying severe, early-onset monogenic disorders. The assay is based on the Affymetrix GeneChip microarray platform but generates genomic DNA sequence as the output.
Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome.
Int J Cancer. 2014 Feb 6. [Epub ahead of print]
Arai E, et al.
The aim of this study was to identify pathways that have a significant impact during renal carcinogenesis. Sixty-seven paired samples of both non-cancerous renal cortex tissue and cancerous tissue from patients with clear cell renal cell carcinomas were subjected to whole-exome, methylome, and transcriptome analyses using Agilent SureSelect All Exon capture followed by sequencing on an Illumina HiSeq 2000 platform, as well as further analysis by Infinium HumanMethylation27 BeadArray and Agilent SurePrint Human Gene Expression microarray. Sanger sequencing and quantitative reverse transcription-PCR were performed for technical verification.
High-resolution microarray in the assessment of fetal anomalies detected by ultrasound.
Aust N Z J Obstet Gynaecol. 2014 Feb;54(1):46-52.
Charan P, et al.
A prospective cross-sectional study was conducted on women diagnosed with a fetal anomalies between February 2009 and December 2011 who were offered testing by microarray analysis and fluorescent in situ hybridization instead of standard karyotyping. The authors determined that 11.8 percent of the cases would have had a genetic basis of an abnormality with a FISH and banded karyotype, while that figure was approximately tripled to 28.8 percent when they offered both FISH and microarray.