[HTML][HTML] Assessment of imputation quality: comparison of phasing and imputation algorithms in real data

K Stahl, D Gola, IR König - Frontiers in genetics, 2021 - frontiersin.org
… servers to the same workflow on their own servers in the highly admixed South African
population, … To estimate the accuracy of imputation in terms of comparing imputed with sequenced …

[HTML][HTML] A comparative analysis of current phasing and imputation software

A De Marino, AA Mahmoud, M Bose, KO Bircan… - Plos one, 2022 - journals.plos.org
… software currently has a significant impact on accuracy [34]. … In this study, we evaluate the
latest versions of the most … a reference panel containing admixed populations, increasing chip …

[HTML][HTML] Performance and accuracy evaluation of reference panels for genotype imputation in sub-Saharan African populations

D Sengupta, G Botha, A Meintjes, M Mbiyavanga… - Cell Genomics, 2023 - cell.com
Evaluating the accuracy of imputation methods in a five-way admixed population. … However,
these statistics do not provide an assessment of the accuracy of the imputed genotypes, and …

[HTML][HTML] Comparison of multiple imputation algorithms and verification using whole-genome sequencing in the CMUH genetic biobank

TY Liu, CF Lin, HT Wu, YL Wu, YC Chen, CC Liao… - Biomedicine, 2021 - ncbi.nlm.nih.gov
… human genetics in recent decades by providing a systematic … 28] to assess the concordance
rate between the imputed genotypes and … Ethnic specificity is critical in genetic research [34]. …

[HTML][HTML] Comparison of genotype imputation for SNP array and low-coverage whole-genome sequencing data

T Deng, P Zhang, D Garrick, H Gao, L Wang… - … in genetics, 2022 - frontiersin.org
… Therefore, both imputation reliability and error rate were used to evaluate the … The use
of multiple populations to form a mixed reference population can effectively reduce genetic …

[HTML][HTML] Strategies for the genomic analysis of admixed populations

T Tan, EG Atkinson - Annual review of biomedical data science, 2023 - annualreviews.org
… (29, 31–34), such that admixed samples form a cline … for best practices for imputation in
admixed populations to be … assessing genetic effect sizes while controlling for the environment. …

[HTML][HTML] Assessing HLA imputation accuracy in a West African population

R Nanjala, M Mbiyavanga, S Hashim, S de Villiers… - Plos one, 2023 - journals.plos.org
… The few studies that have examined HLA imputation accuracy in African populations have
… This study aimed to evaluate HLA allele imputation accuracy in a West African population, …

[HTML][HTML] Genotype imputation in case-only studies of gene-environment interaction: validity and power

M Aleknonytė-Resch, S Szymczak, S Freitag-Wolf… - Human Genetics, 2021 - Springer
… Comparison of the true and imputed genotypes revealed lower imputation accuracy for …
to evaluate the potential loss of statistical validity and power incurred by the use of imputed

[HTML][HTML] Overcoming the challenges of imputation of rare variants in a Taiwanese cohort

A Chattopadhyay, TP Lu - Translational cancer research, 2020 - ncbi.nlm.nih.gov
imputation accuracy (23). Many studies have validated the accuracy and reliability of
imputation of rare variants (24,25), but the focus of most of these studies has been on populations

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

GN Baldrighi, A Nova, L Bernardinelli, T Fazia - Life, 2022 - mdpi.com
… -frequency and rare variants, its accuracy is usually low [33,34,35] and mainly depends on …
(iv) two critical reviews on the quality assessment of imputation methods [17,24]. Seven out of …