Joseph Devaney
Co-Host at Life in the Tax Lane (Canada)
CPA CA, VP Education and Development (Video Tax News)
Articles
-
Apr 24, 2024 |
biorxiv.org | Xiao Chen |Daniel Baker |Egor Dolzhenko |Joseph Devaney
AbstractVariant 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 highly variable copy numbers of these regions.
Try JournoFinder For Free
Search and contact over 1M+ journalist profiles, browse 100M+ articles, and unlock powerful PR tools.
Start Your 7-Day Free Trial →X (formerly Twitter)
- Followers
- 778
- Tweets
- 630
- DMs Open
- No