Bio-IT World October 28, 2021
A “quiet revolution” has been underway over the past year, exponentially growing the number of genetic variants discoverable by genome sequencing, according to Stephen Kingsmore, M.D., president and CEO of Rady Children’s Institute for Genomic Medicine in San Diego. Notably, it is now possible to identify an enormous number of structural variants—large genomic alterations that include insertions, deletions, and copy number variations—which account for about 20% of diagnoses in the neonatal intensive care unit (NICU).
When whole genome sequencing (WGS) was first introduced about a decade ago, the technology was limited to single nucleotide variants and short indel (insertions/deletion) variants, says Kingsmore. “We’re now recognizing that there are literally tens of thousands of events that have never before been...
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