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Phasing Analysis 🧬
Visualize haplotypes and resolve compound heterozygosity.
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🧬 Understanding Phasing Analysis
This view uses your PacBio Phased VCF data to determine which mutations belong to Haplotype 1 (H1) versus Haplotype 2 (H2). The genes listed below are flagged for Compound Heterozygosity, meaning they contain mutations on both parental copies of the gene. In clinical genetics, this often points toward pathogenic mutations that affect every copy of the protein.
Haplotype 1 H1
Haplotype 2 H2
Load a phased VCF to view haplotypes
Potential Compound Heterozygous Genes
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Target Locus (Optional)
Comparison Results
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Target Locus
Differential Methylation
Dataset A
Dataset B
Hypermethylated
Hypomethylated
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