Can I read P460: Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs on EtoBox?

P460: Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs by Shawn Fayer; Malvika Tejura; Abbye McEwen; Lea Starita; Douglas Fowler is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is P460: Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs about?

Introduction: Age-related hearing loss, or presbycusis, affects one-third of the elderly population. While childhood-onset hearing loss is relatively well characterized, the genetics of age-related hearing loss is less clearly understood. Evaluation of exomic and genomic datasets from patients with presbycusis gives the opportunity for a new understanding of the genetics driving age-related hearing loss. The Tapestry DNA Sequencing Research Study through Mayo Clinic allows for the investigation of genes and genomic variants that play a role in presbycusis and better characterization of targets for genetic testing. Methods: From the Tapestry study, 100 cases were phenotypically selected for hearing loss after the age of 60 with audiograms consistent for age-related highfrequency sensorineural hearing loss without evidence of non-genetic causes of hearing loss. Analysis via Emedgene generated variants from these cases with low frequency in the population, allele frequency ≤ 0.01 and homozygous/hemizygous ratio ≤ 10 in gnomAD. These variants were then cross-referenced with 161 genes known to be involved in sensorineural hearing loss. In-silico tools such as REVEL, CADD, and spliceAI w

Who reads P460: Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs?

Author

Shawn Fayer; Malvika Tejura; Abbye McEwen; Lea Starita; Douglas Fowler

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)