Ask the Masterminds:
Leveraging Literature for Effective Variant Curation

Thursday, February 15, 2024 | 11:00 AM EST

The ever-increasing volume of genomic data and the corresponding literature can be hard to keep pace with, making variant interpretation a bottleneck step in the clinical report pipeline. As larger panels, WES, and WGS are ordered more regularly this leads to an influx in the number of variants that may require human assessment. The utilization of a comprehensive database of published variants and accompanying evidence annotations can significantly expedite interpretation, standardize calls between curations and laboratories, and bolster accuracy, adhering to our highest curation standards.

Join us for our next live webinar where we’ll welcome two of our variant curation experts and our Customer Success Manager to explain how Mastermind helps clinical labs handle this increased volume and complexity of genomic information.

You Will Learn:

  • Methods for literature review/tools for integration of AI and machine learning
  • Challenges and solutions in published variant descriptions
  • Real life ACMG criteria applications from the literature

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SPEAKERS

Denice Belandres bio photo circle web

Denice Belandres

Customer Success Manager, Genomenon

Denice provides technical support and training to Mastermind users at all levels. With a background in germline variant analysis and preimplantation genetics in clinical NGS labs, she turns feedback into function, enabling implementation of Mastermind for a variety of clinical use-cases.

Jessica Farmer Bugarin bio photo circle web

Jessica Farmer Bugarin

Curation Scientist II, Genomenon

Jessica is a highly accomplished Curation Scientist II at Genomenon, bringing a wealth of expertise in the field of genetics and genomics. With a deep-seated commitment to advancing genomic research, Jessica has dedicated her career to making meaningful contributions in the areas of rare diseases, oncology, and genomics as a whole. Her work at Genomenon showcases her proficiency in curating and analyzing genetic data with precision and insight.

KT Curry bio image circle web

KT Curry, MS CGC

QA Team Lead

KT Curry, MS, CGC is a QA Team Lead for the Variant Curation team at Genomenon. She has a clinical genetic counseling background in Genetics and Metabolic patient care and specializes in rare disease, kidney disease, and cardiogenetics. She leads a team conducting quality control and assurance for curation projects for Mastermind and Pharma customers and creates variant curation training materials.