The human genome contains an enormous amount of informa-tion about human evolution, development, and medicine. To dis-cover the underlying genetic causes of diseases, comprehensive whole-genome sequencing (WGS) is needed to interrogate all types of genetic variation, including single-nucleotide variants (SNVs) and structural and de novo variants. High-throughput genotyping and sequencing have shown how diversity in the sequence of the human genome affects human diversity. A huge number of variants identified by WGS presents new opportunities and challenges for researchers and clinicians.

The human genome contains an enormous amount of informa-tion about human evolution, development, and medicine. To dis-cover the underlying genetic causes of diseases, comprehensive whole-genome sequencing (WGS) is needed to interrogate all types of genetic variation, including single-nucleotide variants (SNVs) and structural and de novo variants. High-throughput genotyping and sequencing have shown how diversity in the sequence of the human genome affects human diversity. A huge number of variants identified by WGS presents new opportunities and challenges for researchers and clinicians.