Article

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

2024-04-24

Abstract excerpt

Variant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes by phasing all haplotypes of a gene family. We applied Paraphase to 160 long (>10 kb) segmental duplication regions across the human genome with high (>99%) sequence similarity, encoding 316 genes. Analysis across five ancestral populations revealed...

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Literature Corpus work: acae0eed-8ff5-5cf8-b981-3b24216f91cb
DOI: 10.1101/2024.04.19.590294

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