Bioinformatics Training and Education Program

BTEP, Frederick: Variant Analysis: SNVs, CNVs and Structural Variants in WGS and WES April 10, 2019

April 10, 2019

9 – 11 AM

NCI at Frederick, Ft. Detrick, Bldg 549, Auditorium

Presenter: Keyur Talsania, Bioinformatics Analyst, CCR-SF IFX Group

10x Genomics: Whole Exome and Whole Genome Analysis (this is a repeat of the seminar that was given on NIH Campus Oct. 26)

  • How 10x Genomics linked reads works
  • SNVs, copy number variations, structural variants and phasing of the variants from linked read data
  • Walk through of 10x Genomics WGS results
  • Integration of linked reads data with other platforms/technologies

All Structural Variants:

  • CCR Sequencing Facility analysis pipelines of structural variants from Illumina, linked reads, long reads and optical mapping
  • Walk through of SV/CNV pipelines, how they work and results from the SV pipelines