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Updated: Jan 17, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Advances in haplotype phasing and genotype imputation
1Center for Computational and Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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Haplotype phasing - to determine which genetic variants reside on the same chromosome - and genotype imputation - to infer unobserved genotypes - have become indispensable steps to improve genome coverage for genomic analyses such as genome-wide association studies. Several tools exist for haplotype phasing and genotype imputation, all of which have continuously evolved to accommodate the increasing sample sizes of genomic studies and rapidly improving sequencing technologies. To fully leverage these recent advances, researchers must deliberate several practical considerations, including tool choice, quality control filters, data privacy concerns and reference panel choice. Looking ahead, long-read sequencing technologies are poised to bring novel opportunities to this field and drive methodological development.
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