Login / Signup

Variant calling in polyploids for population and quantitative genetics.

Alyssa R Phillips
Published in: Applications in plant sciences (2024)
Advancements in genome assembly and sequencing technology have made whole genome sequence (WGS) data and reference genomes accessible to study polyploid species. Compared to popular reduced-representation sequencing approaches, the genome-wide coverage and greater marker density provided by WGS data can greatly improve our understanding of polyploid species and polyploid biology. However, biological features that make polyploid species interesting also pose challenges in read mapping, variant identification, and genotype estimation. Accounting for characteristics in variant calling like allelic dosage uncertainty, homology between subgenomes, and variance in chromosome inheritance mode can reduce errors. Here, I discuss the challenges of variant calling in polyploid WGS data and discuss where potential solutions can be integrated into a standard variant calling pipeline.
Keyphrases
  • genome wide
  • electronic health record
  • big data
  • high resolution
  • single cell
  • emergency department
  • gene expression
  • single molecule
  • deep learning
  • quality improvement
  • amino acid