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

Summary: Over the last two decades, the human reference genome has undergone multiple updates as we complete a linear representation of our genome. Two versions of human references are currently used in the biomedical literature, GRCh37/hg19 and GRCh38. Conversions between these versions are critica...

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Bibliographic Details
Main Authors: Xin Sheng, Lucy Xia, Jordan L. Cahoon, David V. Conti, Christopher A. Haiman, Linda Kachuri, Charleston W.K. Chiang
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:HGG Advances
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247722000768