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Genome Medicine

, 6:62

3. Genomic epidemiology and public health genomicsEditorial summary

Next-generation sequencing NGS methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges include educational and counseling issues.

AbbreviationsACMGAmerican College of Medical Genetics

ACOGAmerican College of Obstetricians and Gynecologists

CFcystic fibrosis

CFTRcystic fibrosis transmembrane regulator

Hex Aβ-hexosaminase A

NGSnext-generation sequencing

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Autor: Thomas W Prior


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