Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.
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DOI: 10.1038/s41588-022-01043-w
Abstract: 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… read more here.
Keywords: genome inference; pangenome based; genotyping; wide spectrum ... See more keywords