GWAS for genetics of complex quantitative traits: Genome to pangenome and SNPs to SVs and k-mers

Bioessays. 2021 Nov;43(11):e2100109. doi: 10.1002/bies.202100109. Epub 2021 Sep 6.


The development of improved methods for genome-wide association studies (GWAS) for genetics of quantitative traits has been an active area of research during the last 25 years. This activity initially started with the use of mixed linear model (MLM), which was variously modified. During the last decade, however, with the availability of high throughput next generation sequencing (NGS) technology, development and use of pangenomes and novel markers including structural variations (SVs) and k-mers for GWAS has taken over as a new thrust area of research. Pangenomes and SVs are now available in humans, livestock, and a number of plant species, so that these resources along with k-mers are being used in GWAS for exploring additional genetic variation that was hitherto not available for analysis. These developments have resulted in significant improvement in GWAS methodology for detection of marker-trait associations (MTAs) that are relevant to human healthcare and crop improvement.

Keywords: GWAS; MLM; MLMM; MTMM; SVs; genome/pangenome; k-mers.

MeSH terms

  • Genome, Plant / genetics
  • Genome-Wide Association Study*
  • Humans
  • Phenotype
  • Polymorphism, Single Nucleotide* / genetics