Genomic Tests & Practice

Genomic Tests & Practice

The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
Ricci MT, et al.  Eur J Hum Genet. 2014 Feb;22(2):280-2.

Clinical utility gene card for: Maturity-onset diabetes of the young 
Colclough K, et al. Eur J Hum Genet 2014 Feb

Clinical utility gene card for: Oculocutaneous albinism 
Gronskov K, et al. Eur J Hum Genet 2014 Feb

Clinical whole-exome sequencing: are we there yet? 
Atwal PS, et al. Genet Med 2014 Feb

Developing standards for chromosomal microarray testing counselling in paediatrics 
Godfrey E & Clark P Acta Paediatr 2014 Feb

The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels  [PDF 65.70 KB]
European Journal of Human Genetics advance online publication, 19 February 2014

Clinical Chemistry podcast: Genomic test validation for incidental findings (2014)

The $1000 genome, what does it mean for patients? Posted by kjmonahan , Feb 15

Finding out if high cholesterol is inherited could save a life, doctors say, by Erin Ellis, Vancouver Sun, Feb 13