The human reference assembly is one of the most important tools used for genome interpretation.
2015 ACMG: Towards Clinical-grade Detection, Annotation, and Interpretation of Structural Variants from Next-Gen Sequencing Data
Structural variations (SVs), including copy-number variations (CNVs - deletions, duplications) and copy-neutral variations (inversions, balanced translocations), collectively account for more differences between individual genomes than do single-nucleotide variations and small indels.
The contribution of mosaicism to the development of Mendelian disease has been increasingly recognized as techniques sensitive to mosaic detection have been adopted as primary testing strategies.
Whole exome and genome sequencing are increasingly used for clinical diagnosis of rare genetic syndromes yet clinicians often overlook critical issues with next-generation sequencing (NGS) that can impact diagnostic accuracy.