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Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
Typical genotyping workflows map reads to a reference genome before identifying genetic variants. Generating such alignments introduces reference biases and comes with substantial computational burden. Furthermore, short-read lengths limit the ability to characterize repetitive genomic regions, whic...
Autores principales: | Ebler, Jana, Ebert, Peter, Clarke, Wayne E., Rausch, Tobias, Audano, Peter A., Houwaart, Torsten, Mao, Yafei, Korbel, Jan O., Eichler, Evan E., Zody, Michael C., Dilthey, Alexander T., Marschall, Tobias |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group US
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005351/ https://www.ncbi.nlm.nih.gov/pubmed/35410384 http://dx.doi.org/10.1038/s41588-022-01043-w |
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