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This is a recording of a session from the AMP 2018 Annual Meeting & Expo. Purchase the entire AMP Annual Meeting & Expo 2018 Recordings for a significant discount!
Detection of Insertion and Deletion (Indel) variants from next generation sequencing (NGS) data is challenging for current technologies and software. The problem is further compounded by laboratory approaches (e.g. the type of sequence chemistry) and
the specific variant context (e.g. complex variants and difficult genomic regions). This session will discuss the various challenges and novel bioinformatics strategies to enhance the detection of Indel variants from NGS data.
Large Indel Detection in Clinical NGS Assays
Sabah Kadri, PhD, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA
Objectives:
- Summarize the challenges of general purpose variant calling for detection of Indel variants.
- Discuss bioinformatics strategies to improve Indel detection sensitivity from NGS data.
Duration: 1 hr
Recording Date: November 1, 2018
Last day to purchaseDecember 31, 2021
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