Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data
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DOI: 10.1186/s12864-022-08548-y
Abstract: Background Structural variants (SVs) play a crucial role in gene regulation, trait association, and disease in humans. SV genotyping has been extensively applied in genomics research and clinical diagnosis. Although a growing number of SV… read more here.
Keywords: genotyping methods; evaluation structural; long read; comprehensive evaluation ... See more keywords