Publications by authors named "Kate Sears"
Article Synopsis
- - Medical exome sequencing involves multiple steps to identify and prioritize genetic variants before interpretation by professionals, ultimately aiming to provide meaningful reports to patients.
- - A study examined over 13,000 curated variants from 289 patients, identifying 278 clinically significant SNPs and a large number of technical artifacts, with variant allele frequencies (VAFs) playing a crucial role in filtering.
- - The research suggests that excluding SNPs with a VAF below 0.30 could streamline the curation process by about 20% without missing important medical variants.
