Article

STIX: Long-reads based Accurate Structural Variation Annotation at Population Scale

2024-10-01

Abstract excerpt

The prioritization of Structural Variants (SV), which is needed to rank and identify potential pathogenic alleles, is still in its infancy. This is exemplified over gnomAD only being able to annotate 33.5% of GIAB SVs. To overcome this, we present the first long-read based annotation resource for both GRCh38 and CHM13-T2T reference using STIX. In contrast to previous methods, STIX indexes SV-informative long-reads...

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Literature Corpus work: c3c2e3c2-b243-5229-b33f-045070f46721
DOI: 10.1101/2024.09.30.615931

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