Article
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2020
Bean Lora J H, Funke Birgit, Carlston Colleen M, Gannon Jennifer L, Kantarci Sibel, Krock Bryan L, Zhang Shulin, Bayrak-Toydemir Pinar
Abstract excerpt
Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient. Because the genes included on gene panels vary widely between laboratories in gene content (e.g., number, reason for inclusion, evidence level for gene-disease association) and technical...
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