Abstract
Technological breakthroughs in human genetics have introduced genome sequencing as a viable strategy to explore the diversity of genomic variation across global populations and the genetic underpinnings of human disease. It has also brought the immense challenges of genome-wide discovery and interpretation of genomic variation into clinical genetics. Over a decade ago, our teams and others began to explore balanced chromosomal rearrangements (BCRs) at sequence resolution, revealing the diverse mechanisms and extreme complexity by which they can contribute risk for developmental disorders.
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