Share this post

This webinar is geared towards those requiring copy number results from low coverage sequencing results (shallow/targeted) and/or from normal coverage WGS/WES results.

Zhiwei Headshot.jpgSpeaker information
Zhiwei Che, Ph.D.,
Field Application Scientist
BioDiscovery, Inc.

We introduce the BAM (MultiScale Reference) method, implemented in Nexus Copy Number 9.0. The algorithm was designed to function with shallow and targeted sequencing data as well as WGS and WES with normal depth of coverage.

The method uses a Hidden Markov Model to segment the genome: 

  • Coarse binnings are used in the “backbone” areas to provide copy number base line and large copy number events
  • Fine binnings are used in “target” areas to provide high resolution copy number detection in targeted regions

Data used for testing:

  • Shallow PGD WGS data (0.1x)
  • Targeted panel NGS data (100x)
  • WES with normal depth of coverage (30x)

Results will be compared with those from microarray and/or other algorithms in Nexus Copy Number -BAM ngCGH (matched) and BAM (pooled reference).