Article

Portello: Making global assembly more effective for rare-disease whole genome sequencing

2026-02-19

Abstract excerpt

Motivation Long-read de novo assembly methods provide great potential to improve whole genome sequencing analysis for rare-disease, however these methods are typically under-utilized. Among the complications of an assembly-based approach is the difficulty of reviewing read evidence for assembly-based inferences, including access to read-based information on basecall qualities, methylation, and mosaic variants not...

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Literature Corpus work: 7a675709-45fb-5f06-8ade-11483802f97c
DOI: 10.64898/2026.02.18.706714

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