Article

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells

2024-09-25

Abstract excerpt

Long-read whole-genome sequencing (lrWGS) enhances haplotyping by providing more phasing information per read compared to short-read sequencing. However, its use for single-cell haplotype phasing remains underexplored. This proof-of-concept study examines lrWGS data from single cells for small variant (SNV and indel) calling and haplotyping using the Genome in a Bottle (GIAB) Ashkenazi trio. lrWGS was performed on...

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Identifiers and source

Literature Corpus work: 80cb5411-edb3-5481-ae1e-3921ab9c0722
DOI: 10.1101/2024.09.24.614469

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