Author

Vitor Rezende da Costa Aguiar

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Biology Disciplines

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Genomics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

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Bárbara Domingues BitarelloiD· 1 shared Debora Yoshihara Caldeira Brandt· 1 shared Diogo MeyeriD· 1 shared Jérôme GoudetiD· 1 shared Kelly NunesiD· 1 shared

Activity by Year

2015-2015 · peak 1/yr

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1 shared paperGenomics

Bárbara Domingues BitarelloORCID

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1 paper

Recent·Most cited

GenomicsG3 Genes|Genomes|GeneticsPeer-reviewedMay 1, 2015

Mapping bias overestimates reference allele frequencies at the HLA genes in the 1000 Genomes Project phase I data

Debora Yoshihara Caldeira Brandt, Vitor Rezende da Costa Aguiar, Bárbara Domingues Bitarello…·Diogo Meyer

The paper evaluates genotype calls and allele frequency estimates at HLA genes in 1000 Genomes Project data, finding significant overestimation of reference allele frequencies due to mapping bias.

DOI 10.1534/g3.114.015784

humanwhole-genome sequencing

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