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- W3202035743 abstract "Motivation: Linked-reads enables genome-wide phased diploid assemblies. These haplotype-resolved assemblies allow us to genotype structural variants (SVs) with a high sensitivity and be able to further phase them. Yet, existing SV callers are designed for haploid genome assemblies only, and there is no tool to call SV from a large population of diploid assemblies which can define and refine SVs from a global view. Results: We introduce MARS (Multiple Alignment-based Refinement of Svs) in linked-reads for the detection of the most common SV types - indels from diploid genome assemblies of a large population. We evaluated SVs from MARS based on Mendelian law of inheritance and PacBio HiFi reads and it achieved a high validation rate around 73%-87% for indels that we have selected from 34 assembled samples." @default.
- W3202035743 created "2021-10-11" @default.
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- W3202035743 date "2021-09-29" @default.
- W3202035743 modified "2023-09-27" @default.
- W3202035743 title "MARS: a tool for haplotype-resolved population-based structural variation detection" @default.
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- W3202035743 doi "https://doi.org/10.1101/2021.09.27.462061" @default.
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