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Review Article

Bhartiya Krishi Anusandhan Patrika, volume 38 issue 3 (september 2023) : 193-202

Issues and Challenges of Imputation Techniques in Genome Wide Association Studies (GWAS): A Review

Rahul Banerjee1,*, Bharti1, Shbana Begum2, Pankaj Das1, Tauqueer Ahmad1
1ICAR-Indian Agricultural Statistics Research Institute, Library Avenue, Pusa-110 012, New Delhi, India.
2ICAR-National Institute for Plant Biotechnology, LBS Centre, Pusa-110 012, New Delhi, India.

  • Submitted21-09-2022|

  • Accepted23-09-2023|

  • First Online 13-10-2023|

  • doi 10.18805/BKAP597

Cite article:- Banerjee Rahul, Bharti, Begum Shbana, Das Pankaj, Ahmad Tauqueer (2023). Issues and Challenges of Imputation Techniques in Genome Wide Association Studies (GWAS): A Review . Bhartiya Krishi Anusandhan Patrika. 38(3): 193-202. doi: 10.18805/BKAP597.

ABSTRACT

A genome-wide association study (GWAS) rapidly scans DNA markers in many individuals to find genetic links to diseases. New findings aid in disease detection, treatment and prevention. Imputation predicts untyped genotypes in genetic studies when data is missing due to quality, cost, or design issues. It’s a proven statistical technique for estimating unobserved genotypes by borrowing haplotype segments from a densely genotyped reference panel. This allows estimation and testing of associations at unassayed variants.Genotype imputation is vital in analyzing genome-wide association scans, helping geneticists evaluate evidence for association at untyped genetic markers. This summary outlines missing data issues and various imputation methods.

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