Table 1 Overview of existing and newly-added stratification types for the three reference genomes

From: The GIAB genomic stratifications resource for human reference genomes

 

Stratifications

GRCh37

GRCh38

CHM13

Established set

Gene coding regions

This study

Functional, technically difficult to sequence

NA

GC content

This study

Genome specific

NA

Regions with low complexity sequences

This study

Other difficult genomic regions

This study

Segmental duplications

This study

Chromosome XY specific regions

This study

Patterns of local ancestry

X

NA

Low mappability regions

This study

Exploratory set for future versions

Variant complexity in tandem repeats

 

This study

 

Distribution of genomic distance between consecutive variants

 

This study

 

Read coverage of each variant

 

This study

 
  1. Checkmarks denote existing stratifications. “X” denotes stratifications that were not produced previously for a given reference. “This study” denotes stratifications that were added in this work. Stratifications denoted with NA are not covered in this study.