Brook\'s Clinical Pediatric Endocrinology notes

The Human Genome Project was completed in 2003 but it is only now that we are truly in the genomic era. Next‐ generation sequencing (NGS), which allows genome‐ wide detection of variants, is transforming on an unprecedented scale our understanding of pediatric and endocrine diseases by identifying mutations that are pathogenic or confer disease risk: new genes that cause human disease are being identified at the rate of 3 per week.

The Human Genome Project was completed in 2003 but it is only now that we are truly in the genomic era. Next‐ generation sequencing (NGS), which allows genome‐ wide detection of variants, is transforming on an unprecedented scale our understanding of pediatric and endocrine diseases by identifying mutations that are pathogenic or confer disease risk: new genes that cause human disease are being identified at the rate of 3 per week.