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🧬New from @ahoischen.bsky.social & co! 📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
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Long-read HiFi genome sequencing combined with Paraphase enables comprehensive detection of all clinically relevant variant types in paralogous genes. It resolves “dark” regions while enabling haploty...
www.cell.com
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
The American Journal of Human Genetics