Population-Specific Genome Graphs for NGS Data Analysis

Recorded on: 04/15/2021 @ 11:00 AM EDT                    Location: Online

The current human genome reference is derived from a handful of individuals with about 70% originating from a single individual, and therefore it fails to capture the genetic diversity of the vast majority of human populations around the world. Consequently, many bioinformatics methods suffer from a significant loss of accuracy when used to process sequencing data from under-represented populations. In this webinar, we show how genome graphs tailored to specific populations can substantially improve NGS data analysis by better capturing genetic diversity and overcoming reference bias. We discuss the important steps in population-specific graph construction and present our experimental results on individuals of African ancestry.

Key points you will learn:

• Importance of tailored genome graph references for populations that are underrepresented in the current human genome reference.

• Construction and augmentation of population-specific genome graphs.
  Application of GRAF Population Solution to the Pan-African genome.

• Improvements in NGS read alignment, variant calling and structural variant genotyping.
• Comparison of population-specific genome graphs to traditional secondary analysis approaches.