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. 2019 Oct 30;12:305–318. doi: 10.2147/PGPM.S193185

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© 2019 Giri et al.

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).

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Challenges related to rare variants and associated with detection, classification, and reporting.

Abbreviations: ACMG, American College of Medical Genetics and Genomics; AMP, Association for Molecular Pathology; HGVS, Human Genome Variation Society.