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Article
Biochemistry & Molecular Biology
Haplotype-resolved de novo assembly of a Tujia genome suggests the necessity for high-quality population-specific genome references
Haiyi Lou et al.
Summary: This study demonstrates the necessity of population-specific genome assemblies for genetic and medical analysis, especially when studying closely related populations. The de novo assembly of an individual genome (TJ1) from the Tujia population highlighted fine-scale differences between populations and improved precision for variant calling. This approach could potentially reduce false positives in clinical diagnoses and enhance our understanding of genetic diversity within specific ethnic groups.
CELL SYSTEMS (2022)