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Parental co-segregation analysis significantly reduces but does not eliminate VUS rate in multi-gene panel testing

Session:

#73

Date:

Thursday, Oct 5, 2017 12:30pm – 2:00pm

Conference:

—

Authors:

Jade Tinker, Amanda Bergner, Elaine C. Weltmer, Tiffiney Carter, Zöe Powis, Jing Wang

Parental co-segregation analysis was informative in nearly 40% of cases, including 4/6 variants upgraded from variant of unknown significance (VUS) to likely pathogenic variant (VLP)
Gene-specific characteristics, such as reduced penetrance, variable expressivity, and multiple inheritance patterns, were the most frequent barrier to reclassification, accounting for 43% of variants that remained VUS

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