A Pipeline for Phasing and Genotype Imputation on Mixed Human Data (Parents-Offspring Trios and Unrelated Subjects) by Reviewing Current Methods and Software

• Published in: Life (Basel, Switzerland) Vol. 12; no. 12; p. 2030
• Main Authors: Baldrighi, Giulia Nicole, Nova, Andrea, Bernardinelli, Luisa, Fazia, Teresa
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.12.2022; MDPI
• Subjects: Accuracy; Algorithms; Association analysis; Computer applications; Data mining; Ethnicity; Families & family life; Genetic markers; Genetic research; Genomes; Genotype; Genotype & phenotype; Genotypes; Haplotypes; Human genetics; imputation pipeline; LD-based method; Methods; mixed data; Multiple imputation (Statistics); Offspring; Open source software; Population; Review; Sample size; Single-nucleotide polymorphism; SNPs; Software; Statistical software; trios; unrelated subjects; Italy; mixed data; SNPs; unrelated subjects; imputation pipeline; LD-based method; trios
• ISSN: 2075-1729; 2075-1729
• DOI: 10.3390/life12122030

Genotype imputation has become an essential prerequisite when performing association analysis. It is a computational technique that allows us to infer genetic markers that have not been directly genotyped, thereby increasing statistical power in subsequent association studies, which consequently has...