Genetic Analysis of F8 Mutations in Five Hemophilia A Carriers

Huizi Sun's dataset documents genetic analysis of five phenotypically normal female carriers of Hemophilia A. The data includes identified pathogenic variants in the F8 gene, such as intron inversions and small deletions, validated through high-throughput sequencing and Sanger sequencing. The dataset was last updated on 2026-05-15 and is shared under a CC-BY-4.0 license.

Use Cases

• Validate genetic screening pipelines based on the described F8 gene variants.
• Train models to classify pathogenic structural variants based on the described inversion and duplication events.
• Benchmark variant calling algorithms for small deletions and frameshift mutations in the F8 gene.
• Support genetic counseling resources with documented case data on carrier genotypes.

Strengths

• Data includes five distinct pathogenic F8 gene variants, including intron 22 inversion, intron 1 inversion, and frameshift deletions.
• Analysis employed multiple validation techniques, including high-throughput sequencing, long-range PCR, and Sanger sequencing.
• The dataset documents a rare complex structural variant involving Inv1, which may be useful for studying genetic heterogeneity.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is small, with a file size of 671.9 KB, indicating limited scope.

Provenance

Source

Huizi Sun

Collection Method

Genomic DNA extracted from peripheral blood samples, analyzed via high-throughput sequencing, long-range PCR, and Sanger sequencing.

Freshness

Last updated 2026-05-15 04:21:44; freshness should be verified.