Article

Multiscale Analysis of Pangenome Enables Improved Representation of Genomic Diversity For Repetitive And Clinically Relevant Genes

2022-08-06

Abstract excerpt

The advancements in sequencing technologies and assembly methods enable the regular production of high-quality genome assemblies characterizing complex regions. However, challenges remain in efficiently interpreting variations at various scales, from smaller tandem repeats to megabase re-arrangements, across many human genomes. We present a pangenome research toolkit enabling analyses of complex pangenome variatio...

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Literature Corpus work: baf75aad-1426-50a3-a61c-3926120b6b2d
DOI: 10.1101/2022.08.05.502980

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