Please note that this webinar was recorded in 2017. All AMPEDTM content is reviewed and approved annually by the Training & Education Committee as relevant and accurate, but new data may now be available and new studies may have since been published.
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Description:
Next-generation sequencing (NGS) is used to interrogate large sets of genes in a diagnostic setting. Regions of high sequence homology are a major challenge and can lead to false-positive and false-negative diagnostic errors. This webinar will provide a perspective on how to deal with medically important genes that have high sequence homology in a diagnostic setting.
Learning Objectives:
- Interpret the technical challenges posed by homologous sequences in the context of next generation sequencing.
- Apply an assessment of homology in the molecular diagnostic test design process.
- Formulate a strategy to supplement NGS testing for homologous genes.
Speaker:Birgit Funke PhD, FACMG
Host: Avni Santani, PhD
Duration: 0.75 hr
Level of Instruction: Intermediate
Recording Date: May 3, 2017
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