Article

Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing

2022-02-20

Abstract excerpt

Over the last two decades, the human reference genome has undergone multiple updates as we complete a linear representation of our genome. There are two versions of human references currently used in the biomedical literature, GRCh37/hg19 and GRCh38, and conversions between these versions are critical for quality control, imputation, and association analysis. In the present study we show that genomic coordinates f...

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Literature Corpus work: 0f28a6aa-1974-5756-a786-acd1ef942636
DOI: 10.1101/2022.02.19.481174

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