Fig. 4: Integrative view of Egyptian genome reference data for the gene BRCA2, which is associated with breast cancer.
From: An integrated personal and population-based Egyptian genome reference
The rows denote from top to bottom: Genome location on chromosome 13 of the magnified region for BRCA2 (first and second row); GWAS data for breast cancer risk54; Variants that are common in the cohort of 110 Egyptians; Read coverage of genetic region based on 10x Genomics, Illumina paired-end and PacBio sequencing data; Coverage and reads of RNA sequencing data; BRCA2 gene annotation from Ensembl; Repeats annotated by REPEATMASKER; SNVs and indels identified by comparison of assemblies AK1, YORUBA and EGYPT with GRCh38. The colors denote base substitutions (green), deletions (blue) and insertions (red). The region above is included in a larger phase block chr13:25,831,216-33,523,430 and the corresponding variant phasing for the EGYPT individual is displayed in Supplementary Fig. 48.
