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ZENODO
Software . 2026
License: CC BY
Data sources: Datacite
ZENODO
Software . 2026
License: CC BY
Data sources: Datacite
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Phasing Structural Variants with Long Reads and Phased SNP Data

Authors: Simmons, Sean;

Phasing Structural Variants with Long Reads and Phased SNP Data

Abstract

We built this tool to work with long read data and population phased SNPs to phase SV data. In particular, it takes long read DNA data (premapped to the genome), a vcf with SV calls (produced using existing pipelines from the long read data or other sources), and a vcf with SNP data for the same individuals that has already been phased (likely with population based phasing methods). The output is a VCF with phased SVs in it for one individual, phased in such a way as to be consistant with the phased SNPs. Note the output VCF only includes heterozygous SVs and those that are successfully phased (those that are not successfully phased could be for many reasons, ranging from the tool used to recall the SVs (Sniffles currently) to incorrectly genotyped SVs, to issues with SNP phasing) 

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
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Average