Genomics in Practice

Genomics|Update|Current

Genomics in Practice

A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium.
Leming Shi et al, Nature Biotechnology, 2014; 32 (9): 903

Multi-platform assessment of transcriptome profiling using RNA-seq in the ABRF next-generation sequencing study.
Christopher E Mason et al, Nature Biotechnology, 2014; 32 (9): 915

The concordance between RNA-seq and microarray data depends on chemical treatment and transcript abundance.
Weida Tong et al, Nature Biotechnology, 2014; 32 (9): 926

The devil in the details of RNA-seq.
Anton Kratz, Piero Carninci Nature Biotechnology, 2014; 32 (9): 882

Worldwide study demonstrates accuracy of genetic analyses, Science Daily, Sep 12   

A systematic review of factors that act as barriers to patient referral to genetic services
Delikurt T, et al. Eur J Hum Genet 2014 Sep

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN)
Li FY, et al. Eur J Hum Genet 2014 Sep

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Zemojtel T, et al. Sci Transl Med. 2014 Sep 3;6(252):252ra123.

New diagnostic method identifies genetic diseases, Medical Xpress, Sep 16

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders Valérie Biancalana et al. EJHG, September 17, 2017

Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature
Mikat-Stevens NA, et al. Genet Med. 2014 Sep 11. doi: 10.1038/gim.2014.101.

Barriers to genetics in primary care, by Rebecca Burbidge and Dr Philippa Brice, PHG Foundation, Sep 16