2014 PGMG: Reinterpreting Variation in Light of GRCh38

GRCh38 vs. GRCh37

There were many changes to GRCh38 relative to GRCh37. The change most likely to affect our understanding of variation is the addition of paralogs missing in GRCh37 and the removal of false duplication present in GRCh37 due to haplotype expansion in GRCh37.