Table 1.

The important guidelines for WES applications in our clinical applications.

No.	Title	Main content	Main applications	Main diseases	Ref.
1	Guidelines for investigating causality of sequence variants in human disease	Focus on investigating causality of sequence variants in human disease	Research and clinical applications	Rare and common diseases	9
2	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology	Mainly focus on the interpretation of sequence variants in ever-known causative genes	Clinical applications	Mendelian disorders	7
3	Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium	Assess the performance of ACMG/AMP Variant-Interpretation Guidelines with detailed data	Clinical applications	Mendelian disorders	10
4	Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants	Improve on the detailed criteria on determining the “cosegregation” of ACMG	Clinical applications	Mendelian disorders	11
5	Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics	Focus on the secondary findings in clinical exome and genome sequencing	Clinical applications	Mendelian disorders	8
6	Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents	Focus on the statement on genetic testing in children and adolescents	Research and clinical applications	Diseases in children and adolescents	22