Non-Communicable Diseases ► Genomics in Practice [5]

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Non-Communicable Diseases

Genomics in Practice

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
Retterer K, et al. Genet Med 2014 Nov

Communities and community genetics in Ethiopia
Tadesse L, et al. Pan Afr Med J 2014;18:115

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
Farwell KD, et al. Genet Med 2014 Nov

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Mark B. Consugar, et al. Genetics in Medicine, November 20, 2014  

Reacting to genetic risk: An experimental survey of life between health and disease
Almeling R & Gadarian SK J Health Soc Behav 2014 Dec;55(4):482-503

Reporting incidental findings in clinical whole exome sequencing: incorporation of the 2013 ACMG recommendations into current practices of genetic counseling
Smith LA, et al. J Genet Couns 2014 Nov