Medicina Molecular e Genética

Ethnicity-Specific Reference Genome Assembly by Long-Read Sequencing

Abstract

Liu Q, Shi L and Wang K

Analysis of whole genome sequencing data using a human reference genome such as GRCh38 may miss certain classes of population-specific variations. The advancement of long-read sequencing techniques has enabled efficient and effective construction of ethnically relevant reference genomes across populations. In this mini-review, we discuss recent endeavours to build ethnicity-specific reference genomes and summarize findings from these studies.