A comprehensive strategy for exome-based preconception carrier screening : Genetics in Medicine : Springer Nature

A comprehensive strategy for exome-based preconception carrier screening : Genetics in Medicine : Springer Nature

A comprehensive strategy for exome-based preconception carrier screening

• Suzanne C.E.H. Sallevelt MD,
• Bart de Koning PhD,
• Radek Szklarczyk PhD,
• Aimee D.C. Paulussen PhD,
• Christine E.M. de Die-Smulders MD, PhD
• & Hubert J.M. Smeets PhD

• Affiliations
• Corresponding author

Genetics in Medicine

 

(2016)

 

doi:10.1038/gim.2016.153

Received

 

16 June 2016 

Accepted

 

15 August 2016 

Published online 

27 October 2016

Public Health Genomics Knowledge Base (v1.2)

 Carrier Testing expanded expanded

A comprehensive strategy for exome-based preconception carrier screeni
CEH Suzanne et al, Genetics in Medicine, October 27, 2016

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
Holtkamp Kim C A et al. European journal of human genetics : EJHG 2016 Feb 24(2) 171-7

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB