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

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 critical for qua...

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Detalles Bibliográficos
Autores principales: Sheng, Xin, Xia, Lucy, Cahoon, Jordan L., Conti, David V., Haiman, Christopher A., Kachuri, Linda, Chiang, Charleston W.K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709082/
https://www.ncbi.nlm.nih.gov/pubmed/36465187
http://dx.doi.org/10.1016/j.xhgg.2022.100159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709082/
https://www.ncbi.nlm.nih.gov/pubmed/36465187
http://dx.doi.org/10.1016/j.xhgg.2022.100159

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